Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. Epidemiology Prevalence is unknown but isolated hereditary pRTA is very rare. Drug-induced pRTA occurs relatively frequently. Clinical description The onset of hereditary pRTA varies from infancy to adulthood, manifesting initially with very alkaline urine due to bicarbonate wastage. Autosomal recessive pRTA (AR pRTA; see this term) is associated with severe growth retardation leading to short stature, intellectual disability and ocular abnormalities such as band keratopathy, cataracts, and glaucoma. Growth retardation and reduced bone density, due to metabolic acidosis, are seen in autosomal dominant pRTA (AD pRTA; see this term).

Administration of bicarbonate prior to potassium supplementation might lead to worsened hypokalemia, as potassium shifts intracellularly with alkalinization. The principal feature of Fanconi syndrome is bone demineralization ( osteomalacia or rickets ) due to phosphate and vitamin D wasting. ... Clinicopathologic heterogeneity and unusual features in 11 patients". Medicine (Baltimore) . 79 (3): 135–54. doi : 10.1097/00005792-200005000-00002 .

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. Epidemiology The syndrome is exceedingly rare and has been reported in only a few patients to date. ... Clinical description The main clinical features of Fountain syndrome include moderate to severe intellectual deficit, congenital sensorineural hearing impairment, and broad, stubby hands and feet.

Fountain syndrome Other names Deafness-skeletal dysplasia-coarse face with full lips syndrome, Deafness-skeletal dysplasia-lip granuloma syndrome Fountain syndrome has an autosomal recessive pattern of inheritance . Fountain syndrome is an autosomal recessive congenital disorder characterized by mental retardation , deafness , skeletal abnormalities and a coarse face with full lips. The abnormal swelling of the cheeks and lips are due to the excessive accumulation of body fluids under the skin. The deafness is due to malformation of the cochlea structure within the inner ear. Contents 1 Cause 2 Diagnosis 3 Treatment 4 References 5 External links Cause [ edit ] The exact cause of the disorder is unknown, but it is believed to be inherited in an autosomal recessive manner. [1] Diagnosis [ edit ] Fountain syndrome is usually diagnosed in infancy or early childhood.

A rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestations (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2) is a genetic neurodevelopmental disorder characterized by distinctive facial features, low muscle tone ( hypotonia ) at birth, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs), and various other problems involving the central nervous system, heart, and urinary system.

See also Schwartz-Jampel syndrome type 1 (SJS1; 255800), an allelic disorder with a less severe but overlapping phenotype. Clinical Features The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. ... INHERITANCE - Autosomal recessive GROWTH Other - Short-limbed dwarfism HEAD & NECK Head - Occipital skull defect Face - Flat face Ears - Posteriorly rotated ears Nose - Wide nasal bridge Mouth - Small mouth - Micrognathia RESPIRATORY Lung - Pulmonary hypoplasia CHEST External Features - Small chest ABDOMEN External Features - Two vessel cord GENITOURINARY Internal Genitalia (Male) - Cryptorchidism SKELETAL - Chondroosseous morphology notable for short, irregular chondrocyte columns, large, unfused calcospherites, perichondral bone overgrowth and patchy, mucoid degeneration of resting cartilage Spine - Dyssegmental dysplasia - Anisospondyly Limbs - Short, bent long bones Feet - Talipes equinovarus MISCELLANEOUS - Neonatal lethal MOLECULAR BASIS - Caused by mutation in the perlecan gene (HSPG2, 142461.0001 ) ▲ Close

She developed partially refractory seizures at age 3 months, and showed global developmental delay. Dysmorphic features included prominent forehead, hypertelorism, telecanthus, and depressed nasal bridge. ... At birth, she had macrocephaly, hypotonia, frontal bossing, depressed nasal bridge, and normal brain MRI. Features noted later included open anterior fontanel, wide palpebral fissures, ptosis, and profound mental retardation with no psychomotor development. ... Diagnosis Mirzaa et al. (2012) reviewed the phenotypic features of 42 patients with a megalencephalic syndrome in an attempt to clarify and simplify the categorization and diagnosis of these disorders. Statistical analysis of particular features yielded 2 main groups: 21 patients with a vascular malformation consistent with MCAP and 19 with no vascular malformation consistent with MPPH; 2 patients were in an overlap group. Vascular malformations were significantly associated with syndactyly and somatic overgrowth at birth, and lack of vascular malformations was associated with polydactyly. The various features were assigned to 5 major classes of developmental abnormalities.

However, MCAP includes abnormalities of small blood vessels in the skin (capillary malformations) and several other features that are not usually part of MPPH syndrome.

Classic signs and symptoms include polymicrogyria , megalencephaly , seizures, polydactyly, and hydrocephalus. Other features might include characteristic facial features, low muscle tone (hypotonia), and impaired vision.

For a discussion of genetic heterogeneity of MPPH, see 603387. Clinical Features Riviere et al. (2012) reported 2 unrelated patients with MPPH2. ... Molecular Genetics Riviere et al. (2012) performed exome sequencing in an individual (LR08-018) with clinical features overlapping MPPH and MCAP and his parents and identified a de novo mutation in the AKT3 gene (R465W; 611223.0001).

For a discussion of genetic heterogeneity of MPPH, see MPPH1 (603387). Clinical Features Mirzaa et al. (2014) reported 12 unrelated patients with an enlarged head circumference (up to +4.5 SD) associated with ventriculomegaly or hydrocephalus and megalencephaly apparent at birth or in early infancy.

The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males. ... Some affected individuals also have behavioral problems. Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis ), droopy eyelids (ptosis ), prominent cheeks, a broad nasal bridge , a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum ), and a narrow mouth. ... It is unclear how these changes lead to the particular cognitive and physical features of the Maat-Kievit-Brunner type of Ohdo syndrome.

A number sign (#) is used with this entry because X-linked Ohdo syndrome is caused by mutation in the MED12 gene (300188) on chromosome Xq13. Clinical Features Maat-Kievit et al. (1993) described a boy (patient 2) with low weight, blepharophimosis, ptosis, wide depressed nasal bridge, long flat philtrum, thin vermilion, microstomia, micrognathia, cryptorchidism, scrotum hypoplasia, joint hyperextensibility, clinodactyly, overriding third toes, cafe-au-lait spots, developmental delay, deafness, and feeding problems. ... They noted that whereas the MKB phenotype in infancy resembled that of the SBBYS variant of Ohdo syndrome (603736), the phenotype in adulthood was clearly distinct, with coarse facial features, thick alae nasi, triangular face, and a different gestalt from that in the SBBYS type. ... INHERITANCE - X-linked recessive GROWTH Weight - Low weight HEAD & NECK Face - Coarse facial features Ears - Deafness Eyes - Blepharophimosis - Ptosis Nose - Wide nasal bridge - Depressed nasal bridge - Large nose - Bulbous nose Mouth - Long philtrum - Flat philtrum - Thin vermilion - Microstomia - Micrognathia ABDOMEN Gastrointestinal - Feeding problems GENITOURINARY Internal Genitalia (Male) - Cryptorchidism - Scrotal hypoplasia SKELETAL Limbs - Joint hyperextensibility Hands - Clinodactyly Feet - Overriding 3rd toes SKIN, NAILS, & HAIR Skin - Cafe-au-lait spots NEUROLOGIC Central Nervous System - Developmental delay - Mental retardation MOLECULAR BASIS - Caused by mutation in the homolog of the S. cerevisiae mediator of RNA polymerase II transcription, subunit 12 (MED12, 300188.0003 ) ▲ Close

Mutation in TCTN3 can also cause a form of Joubert syndrome (JBTS18; 614815). Clinical Features Baraitser (1986) suggested the existence of a fourth type of orofaciodigital syndrome but recognized that considerable overlap of the features of the various forms gives rise to difficulties in precise clinical differentiation. ... Burn et al. (1984) described 2 sisters, the children of first-cousin Pakistani Moslem parents, who had unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Many of the features resembled those of the Majewski type of short rib-polydactyly syndrome (263520). ... Temtamy and McKusick (1978) had described a patient who they thought showed features of both syndromes. Nevin and Thomas (1989) reported a fifth patient with OFD IV. ... INHERITANCE - Autosomal recessive GROWTH Height - Short stature HEAD & NECK Face - Micrognathia Ears - Low-set ears Eyes - Hypertelorism - Epicanthal folds Mouth - High-arched palate - Cleft palate - Lobulated tongue - Tongue nodules - Oral frenula CHEST External Features - Pectus excavatum SKELETAL Limbs - Short tibiae Hands - Preaxial and/or postaxial polydactyly - Brachydactyly - Clinodactyly - Syndactyly Feet - Preaxial and/or postaxial polydactyly - Syndactyly NEUROLOGIC Central Nervous System - Cerebral atrophy - Porencephaly MOLECULAR BASIS - Caused by mutation in the tectonic family, member 3 gene (TCTN3, 613847.0001 ) ▲ Close

Clinical description Additional features include hypoplastic mandible, micrognathia, cleft palate, prominent eyes, low-set ears and normal intelligence.

One such family has been reported. Clinical Features Iqbal et al. (2013) reported 3 sibs, born of consanguineous Pakistani parents, with moderate intellectual disability (IQ less than 50). ... One had seizures. They did not have dysmorphic features. CT scans of 2 patients were unremarkable.

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip.

Description Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec (Uyanik et al., 2006). ... Dobyns (1996) reviewed the many genetic causes of agenesis of the corpus callosum. Clinical Features Naiman and Fraser (1955) described 2 sisters, and Ziegler (1958) described 2 brothers with agenesis of the corpus callosum associated with mental and physical retardation.

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum: Select Features View in own window Feature % of Persons w/Feature Comment Motor & sensory neuropathy 100% Cranial nerve involvement Ptosis 33%-59% Symmetric or asymmetric Gaze palsy 13%-30% Horizontal nystagmus 20% Facial weakness 34%-100% Symmetric or asymmetric; may be assoc w/hemifacial atrophy Cognitive function Normal 8% Based on Taft clinical classification to stratify cognitive function in 53 persons 1 Mild ID 49% Moderate ID 40% Severe ID 4% Psychotic episodes 39% (25/64) After age 15 yrs 1 Scoliosis 86% Average onset age 10.4 yrs Pulmonary restrictive syndrome Unknown Related to scoliosis & axonal loss affecting respiratory muscles 2 Contractures 59% MCP joint (flexion) contracture 50% Valgus foot deviation 47% Early Achilles tendon retraction 31% Varus foot deviation Seizures 17% Generalized, absence, or focal seizures 3 Tremor 25% ID = intellectual disability; MCP = metacarpophalangeal Based on Larbrisseau et al [1984] and Mathieu et al [1990] 1. ... Mathieu et al [1990] reported that after age 15 years, 39% (25/64) developed "psychotic episodes" characterized by paranoid delusions, depressive states, visual hallucinations, auditory hallucinations, or "autistic-like" features. Life expectancy . Average age of death is 33 years and is usually related to respiratory insufficiency [Larbrisseau & Sarnat 2017]. ... Autosomal Recessive Neurodegenerative Disorders in the Differential Diagnosis of Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum View in own window Gene(s) Disorder Clinical Characteristics Features of Differential Disorder Distinguishing It from HMSN/ACC EGR2 FGD4 FIG4 GDAP1 MTMR2 NDRG1 PRX SBF1 SBF2 SH3TC2 Autosomal recessive HMSN (previously CMT4; see CMT Overview) Severe early-onset neuropathy Absence of ID & dysgenesis of CC PLA2G6 Classic infantile neuroaxonal dystrophy (INAD; see PLA2G6 Neurodegeneration) Classic INAD: typical onset age 6 mos to 3 yrs w/developmental regression, hypotonia, progressive psychomotor delay, & progressive spastic tetraparesis; strabismus, nystagmus, & optic atrophy common; ± partial ACC Rapid disease progression: many affected children never learn to walk or lose this ability shortly after attaining it; severe spasticity, progressive cognitive decline, & visual impairment typically → death in 1st decade. ... The presenting signs may be similar to the classic form with gait instability or ataxia, but may be speech delay and autistic features, which may remain as the only evidence of disease for a year or more.

Andermann syndrome Other names KCC3 axonopathy, Agenesis of corpus callosum with neuronopathy (ACCPN), Charlevoix disease This condition is inherited in an autosomal recessive manner Specialty Medical genetics , neurology Andermann syndrome , also known as agenesis of corpus callosum with neuronopathy ( ACCPN ) and Charlevoix disease , among other names, [1] is a very rare neurodegenerative genetic disorder that damages the nerves used to control muscles and related to sensation and is often associated with agenesis of the corpus collosum . [1] [2] [3] [4] [5] It was first described by Eva Andermann et al. in 1972. [3] [6] [7] Contents 1 Symptoms 2 Genetics 3 Neuropathology 4 Diagnosis 5 Treatment 6 Prognosis 7 Prevalence 8 References 9 External links Symptoms [ edit ] Symptoms begin in infancy and include: [2] [4] hypotonia areflexia amyotrophy variable degrees of dysgenesis of the corpus callosum mild to severe intellectual and developmental delay psychiatric problems including paranoid delusions, depression, hallucinations and autistic-like behavior Genetics [ edit ] The inheritance pattern is autosomal recessive . [4] Several genes have been associated with the disorder, including SLC12A6 . [6] Neuropathology [ edit ] Autopsy examination of 8 cases [8] has shown both developmental and degenerative neuropathologic features in this disease, consistent with clinical duality as both a neurodevelopmental and neurodegenerative disorder. In the central nervous system , accompanying the hypotonia at birth is hypoplasia of the corticospinal tracts . Another developmental feature is seen in the corpus callosum , which varies from absent to hypoplastic . ... Changes in the axons are more severe in the PNS than CNS and under the electron microscope, some axons look necrotic, by virtue of containing mitochondrial flocculent densities and other irreversible changes. [8] The lack of innervation of the body musculature during development gives rise to small body weights, often below 40 kilograms, remarkable in view of the preserved brain weights. [8] Diagnosis [ edit ] Typical diagnostic workup includes [9] clinical features electrophysiologic testing molecular genetic testing (SLC12A6) magnetic resonance imaging (MRI) of the brain (revealing in 60% of the patients callosal agenesis and in 10% partial callosal agenesis) Treatment [ edit ] There is currently no cure, but some symptoms may be treated such as neuroleptics for the psychiatric problems. [5] Prognosis [ edit ] The prognosis is poor. ... "KCC3 axonopathy: neuropathological features in the central and peripheral nervous system" .

Affected individuals typically begin walking late and lose this ability by their teenage years. Other features may include intellectual disability, seizures, contractures, scoliosis, various psychiatric symptoms, various atypical physical features, and cranial nerve problems that cause facial muscle weakness, ptosis, and difficulty following movements with the eyes (gaze palsy).

Some people with Andermann syndrome have atypical physical features such as widely spaced eyes (ocular hypertelorism); a wide, short skull (brachycephaly ); a high arch of the hard palate at the roof of the mouth; a big toe that crosses over the other toes; and partial fusion (syndactyly) of the second and third toes.

Peters-plus syndrome Other names Krause–van Schooneveld–Kivlin syndrome This condition is inherited in an autosomal recessive manner Peters-plus syndrome or Krause–Kivlin syndrome is a hereditary syndrome defined by Peters' anomaly , dwarfism and intellectual disability . [1] [2] Contents 1 Signs and symptoms 2 Cause 3 History 4 See also 5 References 6 External links Signs and symptoms [ edit ] Features of this syndrome include Peters' anomaly , corneal opacity , central defect of Descemet's membrane , and shallow anterior chamber with synechiae between the iris and cornea. [ citation needed ] Craniofacial abnormalities commonly seen in patients with PPS include hypertelorism , ear malformations, micrognathia , round face and broad neck, and cleft lip and palette . [1] Infants are commonly born small for gestational age and have delayed growth.

Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. ... Clinical Characteristics Clinical Description Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay/intellectual disability, typical facial features, and cleft lip/palate. Unless otherwise stated, the following description of clinical findings is based on the reports of Maillette de Buy Wenniger-Prick & Hennekam [2002] and Lesnik Oberstein et al [2006]. ... A behavioral phenotype has not been well delineated thus far. Facial features. Typical facial features include a prominent forehead, short palpebral fissures, a long philtrum, and an exaggerated Cupid's bow of the vermillion of the upper lip. ... Structural brain malformations include hypoplasia or agenesis of the corpus callosum, hydrocephalus [Krause et al 1969, Frydman et al 1991], Dandy-Walker malformation and encephalocele [Schoner et al 2013], and an underdeveloped cerebellum with microcephaly; reported in two children suspected of having Peters plus syndrome Congenital hypothyroidism; reported in two children with features suggestive of Peters plus syndrome and subsequently described in another affected individual [Kosaki et al 2006] Conductive hearing loss; variably present in association with cleft palate but not otherwise a major feature Prenatal complications. ... FAS can also be associated with similar facial features and anterior chamber eye anomalies, including Peters' anomaly.

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability.

Peters plus syndrome (PPS) affects many different parts of the body. The most common affected parts are the eyes. PPS causes abnormal development of the structures in the front of the eye, known as Peters anomaly . Other symptoms include limited growth, short limbs, cleft lip and/or palate, distinctive face, and developmental or intellectual disability. Less common symptoms may include heart and kidney abnormalities. The severity of symptoms varies from person to person. Because PPS has only been reported in a small number of people, it is not clear how this condition changes with age.

Peters plus syndrome is an inherited condition that is characterized by eye abnormalities, short stature, an opening in the lip (cleft lip ) with or without an opening in the roof of the mouth (cleft palate ), distinctive facial features, and intellectual disability. The eye problems in Peters plus syndrome occur in an area at the front part of the eye known as the anterior segment. ... Individuals with Peters plus syndrome also have shortened upper limbs (rhizomelia) and shortened fingers and toes (brachydactyly). The characteristic facial features of Peters plus syndrome include a prominent forehead; small, malformed ears; narrow eyes; a long area between the nose and mouth (philtrum); and a pronounced double curve of the upper lip (Cupid's bow). ... Most affected individuals also have intellectual disability that can range from mild to severe, although some have normal intelligence. The severity of physical features does not predict the level of intellectual disability. ... It is unclear how the loss of functional B3Glc-T enzyme leads to the signs and symptoms of Peters plus syndrome, but impaired glycosylation likely disrupts the function of many proteins, which may contribute to the variety of features. Learn more about the gene associated with Peters plus syndrome B3GLCT Inheritance Pattern This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.

INHERITANCE - Autosomal recessive GROWTH Other - Failure to thrive HEAD & NECK Head - Microcephaly Face - Sloping forehead Ears - Low-set ears CARDIOVASCULAR Heart - Structural cardiac defects (uncommon) - Atrial septal defects - Ventricular septal defects - Persistent foramen ovale - Right ventricular hypertrophy (report in 2 sibs) ABDOMEN Liver - Cholestatic liver disease - Bile duct abnormalities (paucity, proliferation) - Giant cell hepatitis - Pigmentary deposits - Portal tract fibrosis GENITOURINARY Kidneys - Renal tubular acidosis - Fanconi syndrome - Nephropathy - Nephrocalcinosis - Nephrogenic diabetes insipidus (less common) - Renal tubular degeneration SKELETAL - Arthrogryposis multiplex congenita - Fractures at birth Pelvis - Hip dysplasia Feet - Talipes calcaneovalgus SKIN, NAILS, & HAIR Skin - Ichthyosis - Jaundice NEUROLOGIC Central Nervous System - Global developmental delay - Hypotonia - Lissencephaly (reported in 1 patient) METABOLIC FEATURES - Metabolic acidosis HEMATOLOGY - Severe bleeding after biopsies (uncommon) IMMUNOLOGY - Recurrent febrile illnesses - B and T cell defects (reported in 2 sibs) LABORATORY ABNORMALITIES - Conjugated hyperbilirubinemia - Abnormal liver function tests MISCELLANEOUS - Death in infancy, usually from sepsis, dehydration, or acidosis MOLECULAR BASIS - Caused by mutation in the VPS33B-interacting protein, apical-basolateral polarity regulator gene (VIPAR, 613401.0001 ) ▲ Close

Clinical description The phenotype is variable, even within the same family and cases may go undiagnosed as not all the patients present with the three cardinal features. Renal tubular dysfunction ranges from isolated renal tubular acidosis to complete Fanconi syndrome (polyuria, aminoaciduria, glycosuria, phosphaturia and bicarbonate wasting). Hepatic anomalies include variable combinations of cholestasis, intrahepatic biliary duct hypoplasia and lipofuscin deposition. Additional features include severe failure to thrive, platelet dysfunction (which may be responsible for severe bleeding), facial dysmorphism (low set ears, lax skin, a high arched palate, beaked nose and small anterior fontanelle), diarrhea, recurrent febrile illness, cerebral malformations and sensorineural deafness.

Arthrogryposis–renal dysfunction–cholestasis syndrome Other names ARC syndrome [1] Specialty Dermatology Arthrogryposis–renal dysfunction–cholestasis syndrome is a cutaneous condition caused by a mutation in the VPS33B gene. [2] Most of the cases have been survived for infancy. Recently, College of Medical Sciences in Nepal reports a case of ARC syndrome in a girl at the age of more than 18 years. See also [ edit ] Multiple sulfatase deficiency List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Arthrogryposis renal dysfunction cholestasis syndrome" . www.orpha.net . Retrieved 18 May 2019 . ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).

A number sign (#) is used with this entry because of evidence that microphthalmia with limb anomalies (MLA) is caused by homozygous mutation in the SMOC1 gene (608488) on chromosome 14q24. Clinical Features In 5 children of 2 different families with consanguineous parents, Richieri-Costa et al. (1983) described the association of bilateral (in 4) or unilateral (in 1) clinical anophthalmia with multiple other congenital abnormalities, mainly in the distal parts of the limbs. ... They reported an affected boy with consanguineous parents from a second Turkish family and reviewed features of some of the reported cases. ... Megarbane et al. (1998) described a 12-day-old male infant, born of consanguineous Lebanese parents, with clinical anophthalmia, split hand, oligodactyly, syndactyly, and polydactyly. The authors stated that these features were consistent with ophthalmoacromelic syndrome (OAS), but noted that this was the first report of 2/3 syndactyly of the fingers, metacarpal polydactyly, or lobster-claw hand deformity in OAS.

Ophthalmo-acromelic syndrome is a condition that results in malformations of the eyes, hands, and feet. The features of this condition are present from birth. ... Affected individuals may have distinctive facial features, an opening in the lip (cleft lip ) with or without an opening in the roof of the mouth (cleft palate ), or intellectual disability. ... It is unclear how SMOC1 gene mutations lead to the other features of this condition. Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene.

Developmental milestones (such as responsive smile) are often delayed and most patients have moderate to severe intellectual deficiencies. Facial features can include flattened midface, sparse eyelashes, short palpebral fissures, high palate and cleft lip.