Inheritance The transmission pattern of PFMCCD in the families reported by Golabi et al. (1983) and Garcia-Minaur et al. (2003) was consistent with autosomal dominant inheritance. Molecular Genetics In a 3-generation family segregating parietal foramina with cleidocranial dysplasia, Garcia-Minaur et al. (2003) identified heterozygosity for a frameshift mutation in the homeodomain of the MSX2 gene predicting a termination codon 75 triplets downstream (123101.0007). ... Garcia-Minaur et al. (2003) also noted that the clavicular involvement was mild and difficult to assess on physical examination, and suggested that this finding may be more commonly associated with PFM than previously believed and may be characteristic of affected individuals with MSX2 rather than ALX4 (605420) mutations. INHERITANCE - Autosomal dominant HEAD & NECK Head - Persistent wide fontanel CHEST Ribs Sternum Clavicles & Scapulae - Clavicular hypoplasia SKELETAL Skull - Symmetrical, oval defects in the parietal bone MOLECULAR BASIS - Caused by mutation in the msh homeobox 2 gene (MSX2, 123101.0007 ) ▲ Close
A rare genetic bone development disorder characterized by parietal foramina in association with hypoplasia of the clavicles (short abnormal clavicles with tapering lateral ends, with or without loss of the acromion). Additional features may include mild craniofacial dysmorphism (macrocephaly, broad forehead and frontal bossing). No dental abnormalities were reported.
Relative to the genetics and the possibility that these cases represent new dominant mutations, parental age data would be of interest. ... Mobilization of leukocytes after exercise was defective. Inheritance - ? Autosomal dominant new mutations Misc - Recurrent episodic infection - All cases sporadic Lab - Bone marrow shows normal numbers of mature, morphologically normal neutrophils - Poor neutrophil response to epinephrine and endotoxin - Normal leukocyte phagocytosis and bactericidal activity - Defective leukocyte random mobility and chemotaxis Heme - Severe neutropenia ▲ Close
Mapping Mangino et al. (1999) investigated a 4-generation family segregating an autosomal dominant, isolated PTLAH. By genomewide scanning, they localized the gene responsible for this defect to 17q21-q22. ... The paternal grandmother had no clinical characteristics of CMT and normal PMP22 status was established. INHERITANCE - Autosomal dominant SKELETAL Limbs - Patellar aplasia - Patellar hypoplasia SKIN, NAILS, & HAIR Skin - Knee dimple ▲ Close
Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by congenital absence or marked reduction of the patellar bone described in only a few families to date.
All heterozygous loss-of-function SIAE mutations tested functioned in a dominant-negative manner. The homozygous secretion-defective polymorphic variant M89V was catalytically active, could not function in a dominant-negative manner, and was present in 8 individuals with autoimmune disease, but in no controls.
Inheritance Several instances of male-to-male transmission were observed in the family reported by Dohlman (1951), consistent with autosomal dominant inheritance. Molecular Genetics For discussion of a possible association between variation in the TMCO3 gene and cornea guttata with anterior polar cataracts, see 617134.0001. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Corneal endothelial dystrophy (guttata) - Anterior polar cataract - Impaired vision (in some patients) ▲ Close
Clinical Features Santhiya et al. (2004) reported a 4-generation Indian family with autosomal dominant congenital lamellar cataract. Billingsley et al. (2006) examined 13 affected and several unaffected individuals from this family. ... Molecular Genetics In the Indian family with autosomal dominant congenital lamellar cataract originally reported by Santhiya et al. (2004), Billingsley et al. (2006) detected a heterozygous missense mutation in the CRYBA4 gene (F94S; 123631.0001).
It is noteworthy that although this seems to be an autosomal dominant trait, the deficiency is complete. ... Misc - Repeated severe infections - Tuftsin is absent after splenectomy - Post-splenectomy problems with infection Lab - Congenital tuftsin deficiency Inheritance - Autosomal dominant ▲ Close
Inheritance The transmission pattern of IGAN3 in the family reported by Milillo et al. (2015) was consistent with autosomal dominant inheritance. Molecular Genetics In affected members of a large Sicilian family with IGAN3, Milillo et al. (2015) identified a heterozygous missense mutation in the SPRY2 gene (R119W; 602466.0001). ... Cells from 2 unrelated patients with IgA nephropathy who did not have SPRY2 mutations also showed downregulation of the MAPK/ERK1/2 pathway, suggesting that it may be a common disease mechanism. INHERITANCE - Autosomal dominant CARDIOVASCULAR Vascular - Hypertension GENITOURINARY Kidneys - IgA nephropathy - IgA deposition in the kidneys - End-stage renal disease (in some patients) LABORATORY ABNORMALITIES - Proteinuria - Hematuria MISCELLANEOUS - Onset after age 20 years - Progressive disorder - One family of Sicilian origin has been reported (last curated February 2016) MOLECULAR BASIS - Caused by mutation in the sprouty RTK signaling antagonist 2 gene (SPRY2, 602466.0001 ) ▲ Close
Identical lod scores of 3.58 were obtained for both markers under a dominant model of inheritance; the authors noted that because the markers are only 2.8 Mb apart, it is likely that they indicate the same linked gene. ... Molecular Genetics Exclusion Studies In 6 pedigrees with keratoconus mapping to chromosome 14q24.3, Liskova et al. (2010) sequenced the coding region of the positional and functional candidate gene VSX2 (CHX10; 142993) but did not detect a sequence alteration that segregated with disease in any of the families. INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Keratoconus ▲ Close
Inheritance The transmission pattern of intestinal lymphangiectasia in the family reported by Homburger and Petermann (1949) was consistent with autosomal dominant inheritance. Hair - Double hair whorl Immunology - Skin anergy - Impaired allograft rejection - Impaired in vitro blastic transformation ofperipheral blood lymphocytes Thorax - Prominent floating ribs (ribs 11 and 12) Skin - Leg edema - Leg ulcers in males Lab - Dysproteinemia of variable type - Dilated lymphatic spaces and partial villous atrophy of small bowel - Neonatal hypoproteinemia - Hypogammaglobulinemia Inheritance - Autosomal dominant Misc - High incidence of stillbirths GI - Intestinal lymphangiectasia - Malabsorption - Intestinal protein loss Heme - Lymphopenia ▲ Close
Hypoalphalipoproteinemia Hypoalphalipoproteinemia has an autosomal dominant pattern of inheritance . Specialty Endocrinology Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner. [1] It can be associated with LDL receptor . [2] Associated regions and genes include: Name OMIM Locus Candidates HDLCQ1 606613 9p ABCA1 ( Tangier disease ) [3] HDLCQ2 607053 8q23 HDLCQ3 607687 16q24.1 Lecithin cholesterol acyltransferase deficiency (LCAT) HDLCQ4 610239 4q32 HDLD3 605201 11q23.3 APOA1 Niacin is sometimes prescribed to raise HDL levels.
Description Nasopalpebral lipoma-coloboma syndrome (NPLCS) is an autosomal dominant condition characterized by upper eyelid and nasopalpebral lipomas, colobomas of upper and lower eyelids, telecanthus, and maxillary hypoplasia (summary by Suresh et al., 2011). ... Inheritance The transmission pattern of NPLCS in the families reported by Penchaszadeh et al. (1982) and Akarsu and Sayli (1991) was consistent with autosomal dominant inheritance with complete penetrance. Molecular Genetics For discussion of a possible association between variation in the ZDBF2 gene and nasopalpebral lipoma-coloboma syndrome, see 617059.0001. INHERITANCE - Autosomal dominant HEAD & NECK Head - Dolichocephaly Face - Broad forehead - Nasopalpebral lipomas, bilateral symmetric - Maxillary hypoplasia Ears - Low-set ears - Cupped ears - Dysplastic ears Eyes - Upper and lower lid colobomas, bilateral symmetric - Flaring of medial eyebrow - Telecanthus - Malpositioning or aplasia of lacrimal punctae - Persistent epiphora - Conjunctival hyperemia - Nanophthalmos Nose - Broad nasal bridge - Depressed nasal bridge SKELETAL Skull - Dolichocephaly Hands - Fifth finger clinodactyly, bilateral SKIN, NAILS, & HAIR Hair - Widow's peak MUSCLE, SOFT TISSUES - Histologic examination of tumor tissue shows mixed smooth muscle hamartoma and lipoma ▲ Close
Genetic counseling Vertical, male-to-male transmission in 3 and 4 generations suggests autosomal dominant mode of inheritance with complete penetrance.
There were 2 instances of male-to-male transmission, suggesting autosomal dominant inheritance. Corneal pannus was described as 'a small peripheral margin of pannus, about 1 mm in width, for 360 degrees.' ... Inheritance Male-to-male transmission in the family with foveal hypoplasia reported by O'Donnell and Pappas (1982) suggested autosomal dominant inheritance. Molecular Genetics In a family with isolated foveal hypoplasia, Azuma et al. (1996) identified a heterozygous missense mutation in the PAX6 gene (607108.0012) that segregated with the phenotype. ... In affected members of a family with foveal hypoplasia, congenital nystagmus, and anterior segment anomalies (mainly iris hypoplasia or atypical coloboma), Vincent et al. (2004) identified a heterozygous splice mutation in the PAX6 gene (607108.0021). INHERITANCE - Autosomal dominant HEAD & NECK Eyes - Foveal hypoplasia - Presenile cataract - Subnormal visual acuity - Congenital nystagmus - Peripheral corneal pannus MOLECULAR BASIS - Caused by mutation in the paired box homeotic gene 6 (PAX6, 607108.0012 ) ▲ Close
Foveal hypoplasia-presenile cataract syndrome is a rare, genetic ocular disease characterized by congenital nystagmus (horizontal, vertical and/or torsional), foveal hypoplasia, presenile cataracts (with typical onset in the second to third decade of life), and normal irides. Corneal pannus and/or optic nerve hypoplasia may also be present.
Description Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. ... Inheritance The transmission pattern of AIFEC in the family reported by Romberg et al. (2014) was consistent with autosomal dominant inheritance. Molecular Genetics In a father and his 2 sons with autoinflammation with infantile enterocolitis, Romberg et al. (2014) identified a heterozygous missense mutation in the NLRC4 gene (V341A; 606831.0001). ... Cellular transfection of the mutations also resulted in increased secretion of IL1B and IL18, indicating that both mutations caused a gain of function with constitutive activation of CASP1 (147678). INHERITANCE - Autosomal dominant GROWTH Height - Short stature Other - Failure to thrive ABDOMEN Spleen - Splenomegaly Gastrointestinal - Enterocolitis, infantile - Secretory diarrhea, infantile - Vomiting, infantile - Villous blunting SKELETAL - Arthralgias SKIN, NAILS, & HAIR Skin - Rash MUSCLE, SOFT TISSUES - Myalgias METABOLIC FEATURES - Fever, episodic HEMATOLOGY - Disseminated intravascular coagulation, episodic - Pancytopenia, episodic IMMUNOLOGY - Autoinflammation, systemic - Activated macrophages - Low NK cells - Dysfunctional NK cells LABORATORY ABNORMALITIES - Increased C-reactive protein - Increased serum ferritin - Increased IL18 - Increased IL1B Increased soluble IL2R MISCELLANEOUS - Onset in neonatal period or early infancy - Enterocolitis tends to remit with age - Flares triggered by viral infection, overexertion, stress - Two unrelated families have been reported (last curated October 2014) MOLECULAR BASIS - Caused by mutation in the NLR family, caspase recruitment domain-containing 4 gene (NLRC4, 606831.0001 ) ▲ Close
A rare genetic systemic or rheumatologic disease characterized by neonatal or infantile onset of enterocolitis (which resolves with age), periodic fever, and episodes of severe systemic inflammation, which may be precipitated by infections, stress, or fatigue. Signs and symptoms include splenomegaly, urticaria-like rashes, arthralgia, and myalgia. Associated laboratory findings are elevated inflammatory markers (such as ferritin, C-reactive protein), pancytopenia, and elevated transaminases. If left untreated, flares can progress to coagulopathy, organ failure, and death.
Neumann et al. (2003) reported an additional family with survival to adulthood and dominant transmission of the Torrance-Luton type of platyspondylic chondrodysplasia and additional radiographs of the family described by Omran et al. (2000). ... Similar mutations cause spondyloperipheral dysplasia (see 271700), a nonlethal dominant disorder whose clinical and radiographical features overlap those of the rare long-term survivors with PLSDT. INHERITANCE - Autosomal dominant GROWTH Height - Dwarfism, neonatal short-limbed HEAD & NECK Head - Macrocephaly Face - Coarse facies Neck - Short neck CHEST External Features - Narrow chest Ribs Sternum Clavicles & Scapulae - Short, thin ribs ABDOMEN External Features - Protuberant abdomen SKELETAL - Luton type - hypercellular resting cartilage, normal and large cells, normal column formation, focal degenerating chondrocyte incorporation and focal disorganization - Torrance type - Hypercellular resting cartilage, large cells, normal growth plate Skull - Decreased cranial base ossification Spine - Platyspondyly, extreme - Disc-like vertebral bodies Pelvis - Hypoplastic, wide sacrosciatic notches - Flat acetabular roof Limbs - Severe limb shortening - Short, tubular long bones - Metaphyseal cupping - Hypoplastic ilia - Hypoplastic ischia - Hypoplastic pubis MISCELLANEOUS - Luton and Torrance type differentiated based on histologic findings in cartilage MOLECULAR BASIS - Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0039 ) ▲ Close
Find sources: "Platyspondylic lethal skeletal dysplasia, Torrance type" – news · newspapers · books · scholar · JSTOR ( October 2016 ) ( Learn how and when to remove this template message ) Platyspondylic lethal skeletal dysplasia, Torrance type Other names Platyspondylic dysplasia, Torrance-Luton type Platyspondylic lethal skeletal dysplasia, Torrance type is inherited in an autosomal dominant pattern. Platyspondylic lethal skeletal dysplasia, Torrance type is a severe disorder of bone growth. ... This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Learn more about the gene associated with Platyspondylic lethal skeletal dysplasia, Torrance type COL2A1 Inheritance Pattern This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Hollingsworth and Mabry (1976) reported a subset of patients with 'congenital Graves disease' in whom the disorder was not caused by immunoglobulins. The authors favored autosomal dominant inheritance with female predilection. ... Molecular Genetics In affected members of 2 large unrelated kindreds from northern France with autosomal dominant nonautoimmune hyperthyroidism, Duprez et al. (1994) identified 2 different heterozygous mutations in the TSHR gene (603372.0019; 603372.0020). ... In an infant with nonautoimmune hyperthyroidism, de Roux et al. (1996) identified a heterozygous mutation in the TSHR gene (603372.0007). INHERITANCE - Autosomal dominant GROWTH Weight - Low birth weight HEAD & NECK Eyes - Absence of exophthalmos CARDIOVASCULAR Heart - Tachycardia SKELETAL - Advanced bone age SKIN, NAILS, & HAIR Skin - Absence of dermopathy - Absence of pretibial myxedema NEUROLOGIC Central Nervous System - Delayed motor development - Delayed speech development - Mental retardation - Sleep difficulties Behavioral Psychiatric Manifestations - Hyperactivity ENDOCRINE FEATURES - Hyperthyroidism - Goiter - Thyroid hyperplasia - Absence of immune complexes and lymphocytes in thyroid tissue IMMUNOLOGY - Absence of anti-thyroid antibodies PRENATAL MANIFESTATIONS Delivery - Premature delivery of affected infants LABORATORY ABNORMALITIES - Decreased serum thyroid-stimulating hormone (TSH) - Increased serum levels of free plasma thyroid hormones MISCELLANEOUS - De novo mutation (in some patients) - Age at onset ranges from neonatal to adulthood - Phenotypic variation - Patients usually require total thyroidectomy - Distinct disorder from transient neonatal hyperthyroidism due to maternal Graves disease (see 275000 ) MOLECULAR BASIS - Caused by mutation in the thyroid-stimulating hormone receptor gene (TSHR, 603372.0004 ) ▲ Close
A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.
A number sign (#) is used with this entry because an autosomal dominant form of fundus albipunctatus can be caused by mutation in the RDS gene (PRPH2; 179605) and an autosomal recessive form can be caused by mutation in the RDH5 gene (601617). ... Night blindness occurs. Both autosomal dominant and autosomal recessive inheritance had been suggested (Krill and Folk, 1962; Krill, 1977). ... The authors concluded that pathways in addition to 11-cis-RDH likely provide 11-cis-retinal to rods and cones and can maintain normal kinetics of visual recovery, but only under certain constraints and less efficiently for cone than for rod function. INHERITANCE - Autosomal dominant - Autosomal recessive HEAD & NECK Eyes - Fleck retina disease - Discrete uniform white dots over entire fundus - Cone dysfunction seen on ERG (in some patients) - Macular involvement (in some patients) - Absent rod responses seen on ERG (in some patients) - Night blindness MOLECULAR BASIS - Caused by mutation in the retinaldehyde-binding protein-1, cellular gene (RLBP1, 180090.0001 ) - Caused by mutation in the retinol dehydrogenase-5 gene (RDH5, 601617.0001 ) - Caused by mutation in the peripherin 2 gene (PRPH2, 179605.0005 ) ▲ Close
A progressive form of familial flecked retinopathy characterized by white punctata throughout the fundus (but sparing the macula in the early stages). Patients present with nightblindness in childhood and may also experience a loss of visual acuity. Significant loss of vision is reported in the 5th and 6th decades of life.
Fundus albipunctatus is an eye disorder characterized by an impaired ability to see in low light (night blindness) and the presence of whitish-yellow flecks in the retina, which is the specialized light-sensitive tissue in the inner lining of the back of the eye (the fundus). The flecks are detected during an eye examination. Individuals with fundus albipunctatus experience night blindness from an early age. In particular, they have delayed dark adaptation, which means they have trouble adapting from bright light to dark conditions, such as when driving into a dark tunnel on a sunny day. It often takes hours for adaptation to occur. Their vision in bright light is usually normal. The flecks are especially abundant near the outer edge (the periphery) of the retina.
Fundus albipunctatus is a rare, genetic retinal dystrophy disorder characterized by the presence of numerous small, round, yellowish-white retinal lesions that are distributed throughout the retina but spare the fovea. Patients present in childhood with non-progressive night blindness with prolonged cone and rod adaptation times. The macula may or may not be involved, which may result in a decrease of central visual acuity with age.
Sass et al. (2004) described an affected male who, in contrast to the first published case (Zschocke et al., 2000), did not present with neonatal metabolic decompensation, but rather showed essentially normal development through most of his first year of life. ... Perez-Cerda et al. (2005) reported 3 patients with MHBD deficiency from 2 unrelated Spanish families. In the first family, a girl presented with psychomotor delay from the first months of life and later showed ataxic gait, speech delay, and sensorineural deafness. ... The findings suggested that the major pathogenic mechanism resulting from HSD17B10 mutations is the adverse effect on mitochondrial function. INHERITANCE - X-linked dominant HEAD & NECK Ears - Hearing loss, sensorineural Eyes - Retinal degeneration - Nystagmus - Optic atrophy - Visual loss CARDIOVASCULAR Heart - Hypertrophic cardiomyopathy NEUROLOGIC Central Nervous System - Delayed psychomotor development - Intellectual disability - Progressive neurodegeneration - Hypotonia - Choreoathetosis - Seizures - Loss of developmental milestones - Speech delay - Dysarthria - Spasticity - Spastic tetraplegia - Cortical atrophy, mild Behavioral Psychiatric Manifestations - Restlessness - Aggression - Agitation METABOLIC FEATURES - Lactic acidosis (in some patients) - Metabolic acidosis (in some patients) LABORATORY ABNORMALITIES - Patient cells show abnormal mitochondrial morphology - Decreased activity of 2-methyl-3-hydroxybutyryl Co-A dehydrogenase - Increased urinary 2-methyl-3 hydroxybutyrate - Increased urinary tiglylglycine MISCELLANEOUS - Age at onset can range from infancy to childhood - Highly variable phenotype and severity - Less severe phenotype in females - Severity of phenotype is not related to residual enzyme activity MOLECULAR BASIS - Caused by mutation in the 17-beta-hydroxysteroid dehydrogenase X gene (HSD17B10, 300256.0001 ) ▲ Close
HSD10 disease is a disorder that affects the nervous system, vision, and heart. It is typically more severe in males than in females. Most affected males have a form of HSD10 disease in which early development seems normal, followed by a stage in which affected individuals rapidly lose skills they have acquired. This developmental regression often occurs between the ages of 1 and 2 and results in severe intellectual disability and loss of communication skills and motor skills such as sitting, standing, and walking. This form of the disorder is referred to as the infantile type. Less commonly, affected males have severe neurological problems from birth and never develop motor skills. This form is called the neonatal type. Males with the infantile or neonatal type frequently have weak muscle tone (hypotonia), recurrent seizures (epilepsy), and vision loss that gradually gets worse.
It is characterized by severe metabolic/lactic acidosis in the neonatal period, scarce neurological development, severe progressive cardiomyopathy and death within the first months of life. Other variants of HSD10 disease are less well defined and usually reflect attenuated forms.
HSD10 disease, infantile type is a clinical subtype of HSD10 disease, a rare neurometabolic disorder. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with developmental regression, progressive visual and hearing loss, epilepsy and other neurological symptoms, and severe cardiomyopathy. Laboratory investigations show signs of mitochondrial dysfunction, and increased urinary excretion of specific isoleucine metabolites. The disease is often fatal around 2-4 years of age.
Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). ... Andre et al. (1981) described a family in which 3 male first cousins, sons of 3 sisters, had a phenotype almost identical to that in the patients described by Fitch et al. (1976). ... The follow-up radiographs on the Fitch patient (Fitch et al., 1983) showed extraordinary changes in the hands and feet: short great toe (short first ray) and relatively long second ray in the feet, abnormal epiphyses of the proximal phalanges of the hands, short first metacarpal, and extra bone in the capitate-hamate complex. ... Stefanova et al. (2005) concluded that the disorder in this family is best described as an intermediate OPD-spectrum phenotype that bridges the FMD and OPD2 phenotypes. INHERITANCE - X-linked dominant GROWTH Height - Short stature Other - Postnatal growth retardation HEAD & NECK Head - Large anterior fontanel Face - Prominent forehead - Severe micrognathia - Midface hypoplasia Ears - Low-set ears - Conductive hearing loss - Posteriorly rotated ears Eyes - Hypertelorism - Downslanting palpebral fissures Nose - Flat nasal bridge Mouth - Small mouth - Cleft palate RESPIRATORY - Respiratory failure CHEST External Features - Narrow chest Ribs Sternum Clavicles & Scapulae - Pectus excavatum - Thin, wavy clavicles - Wavy, short ribs ABDOMEN Gastrointestinal - Omphalocele GENITOURINARY External Genitalia (Male) - Hypospadias Internal Genitalia (Male) - Cryptorchidism Kidneys - Hydronephrosis SKELETAL - Dysharmonic bone maturation Skull - Late closure of large anterior fontanel - Wide sutures - Midface hypoplasia - Vertical clivus - Small mandible - Sclerotic skull base - Wormian bones Spine - Flattened vertebrae - Spondylolysis Pelvis - Congenital hip dislocation - Hypoplastic ilia Limbs - Dense long bones - Radial bowing - Ulnar bowing - Femoral bowing - Tibial bowing - Small to absent fibula - Subluxed elbow, wrist, and knee Hands - Flexed, overlapping fingers - Short, broad thumbs - Postaxial polydactyly - Syndactyly - Second finger clinodactyly - Hypoplastic, irregular metacarpals - 'Tree-frog' hands Feet - Short, broad halluces - Syndactyly - Nonossified fifth metatarsal - Rocker-bottom feet - 'Tree-frog' feet - Hypoplastic metatarsals NEUROLOGIC Central Nervous System - Mental retardation - Hydrocephalus MISCELLANEOUS - Majority of patients are stillborn or die before 5 months of age - Milder manifestations in heterozygous females (broad face, downslanting palpebral fissures, and cleft palate) - Otopalatodigital syndrome type I (OPD1, 311300 ) is an allelic disorder - Frontometaphyseal dysplasia (FMD, 305620 ) is an allelic disorder - Melnick-Needles syndrome (MNS, 309350 ) is an allelic disorder - Periventricular heterotopia ( 300049 ) is an allelic disorder MOLECULAR BASIS - Caused by mutation in the filamin A gene (FLNA, 300017.0010 ) ▲ Close
Otopalatodigital syndrome type 2 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles ), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits). Otopalatodigital syndrome type 2 also tends to cause problems in other areas of the body, such as the brain and heart. People with otopalatodigital syndrome type 2 have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; a broad, flat nose; and a very small lower jaw and chin (micrognathia).
