Cross syndrome Other names Oculocerebral hypopigmentation syndrome, Cross type [1] Cross syndrome is inherited in an autosomal recessive manner Specialty Endocrinology Cross–McKusick–Breen syndrome (also known as " Cross syndrome ", " hypopigmentation and microphthalmia ", and " oculocerebral-hypopigmentation syndrome ") is an extremely rare disorder characterized by white skin, blond hair with yellow-gray metallic sheen, small eyes with cloudy corneas , jerky nystagmus , gingival fibromatosis and severe intellectual disability and physical retardation. [2] : 867–8 It was characterized in 1967. [3] See also [ edit ] Oculocerebrocutaneous syndrome List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Oculocerebral hypopigmentation syndrome, Cross type" . www.orpha.net . Retrieved 19 April 2019 . ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology . (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ Cross HE, McKusick VA, Breen W (March 1967). "A new oculocerebral syndrome with hypopigmentation".

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.

A rare soft tissue tumor characterized by a slow-growing, usually painless, subcutaneous nodule, predominantly located in the extremities, less frequently the trunk or head and neck region. Histopathologically, the lesion is well-circumscribed, lobulated, and composed of epitheloid, ovoid, or spindle cells arranged in a nodular and often syncytial pattern, with pseudoangiomatoid spaces and a peripheral fibrous pseudocapsule with a prominent lymphoplasmacytic cuff. The tumor is most common in the first two decades of life and usually follows an indolent course, although local recurrence may occur, while metastasis is rare.

Type of tumor which affects children and adolescents Angiomatoid fibrous histiocytoma Micrograph showing an angiomatoid fibrous histiocytoma. H&E stain . Angiomatoid fibrous histiocytoma (AFH) , is a rare soft tissue cancer that affects children and young adults. On November 16, 2020, US MasterChef Junior participant Ben Watkins died from the disease at the age of 14. [1] Contents 1 Pathology 2 Diagnosis 3 Treatment 4 See also 5 References 6 External links Pathology [ edit ] It is characterized by cystic blood-filled spaces and composed of histiocyte -like cells. A lymphocytic cuff is common. It often simulates a vascular lesion, and was initially described as doing this. [2] AFH typically has a chromosomal translocation involving the ATF1 gene -- t(12;16) FUS/ATF1 or t(12;22) EWS/ATF1. [3] Diagnosis [ edit ] This section is empty. You can help by adding to it . ( December 2017 ) Treatment [ edit ] This section is empty.

Yim–Ebbin syndrome Other names Amelia cleft lip palate hydrocephalus iris coloboma Yim–Ebbin syndrome is a congenital disorder characterized by the absence of arms, a cleft lip and palate , hydrocephalus , and an iris coloboma . [1] It was first described by Yim and Ebbin in 1982, [2] and later by Thomas and Donnai in 1994. [3] In 1996, a third case was reported by Froster et al. who suggested that the three cases were related and represented a distinct syndrome. [4] In 2000, a similar case was reported by Pierri et al. [5] It is also known as "amelia cleft lip palate hydrocephalus iris coloboma". [1] References [ edit ] ^ a b "MeSH Supplementary Concept Data" . MeSH . Retrieved 2011-11-05 . ^ A. J., D. K. C.; Ebbin (1982). "Bilateral brachial amelia with cleft lip and palate and hydrocephaly: case report 82". Syndrome Identification . 8 : 3–5. ^ Thomas, M.; Donnai, D. (1994). "Bilateral brachial amelia with facial clefts and holoprosencephaly". Clinical Dysmorphology . 3 (3): 266–269. doi : 10.1097/00019605-199407000-00015 . PMID 7981864 . ^ Froster, U. G.; Briner, J.; Zimmerman, R.; Huch, R.; Huch, A. (1996).

Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves (summary by Zimon et al., 2012). Clinical Features Hahn et al. (1991) reported a Canadian brother and sister of Chinese origin with childhood-onset neuromyotonia and progressive motor neuropathy.

In some rare cases, acquired neuromyotonia has been misdiagnosed as amyotrophic lateral sclerosis (ALS) [6] particularly if fasciculations may be evident in the absence of other clinical features of ALS. However, fasciculations are rarely the first sign of ALS as the hallmark sign is weakness. [7] Similarly, multiple sclerosis has been the initial misdiagnosis in some NMT patients.

Isaacs' syndrome is a rare neuromuscular disorder that is characterized by progressive muscle stiffness; continuously contracting or twitching muscles (myokymia); and diminished reflexes. Signs and symptoms generally develop between ages 15 and 60, with most people experiencing symptoms before age 40. Although the exact underlying cause is unknown, there appear to be hereditary and acquired (non-inherited) forms of the condition. Treatment is based on the signs and symptoms present in each person.

A rare peripheral neuropathy characterized by slowly progressive axonal, motor greater than sensory, polyneuropathy combined with neuromytonia (including spontaneous muscular activity at rest (myokymia), impaired muscle relaxation (pseudomyotonia), and contractures of hands and feet) and neuromyotonic or myokymic discharges on needle EMG. It presents with distal lower limb weakness with gait impairment, muscle stiffness, fasciculations and cramps in hands and legs worsened by cold, decreased to absent tendon reflexes, intrinsic hand muscle atrophy and, variably, mild distal sensory impairment.

Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia. Epidemiology Prevalence is unknown but 100 -200 cases have been reported so far. Clinical description The age of disease onset ranges from infancy to the sixth decade, with a peak incidence between forty and sixty. Isaac's syndrome is characterized by continuous muscle fiber activity at rest (even during sleep), resulting in cramps, muscle stiffness and weakness, pseudomyotonia, muscle twitching (visible myokymia), and fasciculation. Hyperhidrosis, muscle hypertrophy and hyporeflexia are also observed.

A rare, syndromic intellectual disability characterized by hypotonia, global developmental delay, limited or absent speech, intellectual disability, macrocephaly, mild dysmorphic features, seizures and autism spectrum disorder.

A number sign (#) is used with this entry because of evidence that autosomal dominant mental retardation-35 (MRD35) is caused by heterozygous mutation in the PPP2R5D gene (601646) on chromosome 6p21. Clinical Features The Deciphering Developmental Disorders Study (2015) identified 4 patients with intellectual disability and mutation in the PPP2R5D gene. ... Most had increased head circumference, which was associated with hydrocephalus in at least 1 case. Dysmorphic facial features included hypotonic face with tented upper lip, mild hypertelorism with downslanting palpebral fissures, and frontal bossing.

Morgagni-Stewart-Morel (MSM) syndrome is a disorder characterized by thickening of the frontal bone of the skull (hyperostosis frontalis interna), as well as obesity and excessive hair growth (hypertrichosis). Other signs and symptoms may include seizures, headaches, diabetes insipidus , and sex gland disturbances. The cause of Morgagni-Stewart-Morel syndrome is not fully understood. Some instances of dominant inheritance have been reported, but whether it is autosomal dominant or X-linked dominant is not known. Treatment may include medication for headaches and seizures and surgery to remove the excessive bone of the skull.

A rare cranial malformation characterized by hyperostosis frontalis interna, variably associated with metabolic and endocrine disorders (such as obesity, diabetes mellitus, and hirsutism, among others). Compression by calvarial thickening may lead to cerebral atrophy and present with cognitive impairment, neuropsychiatric symptoms, headaches, and epilepsy. The condition predominantly affects women.

Hyperostosis frontalis interna Hyperostosis frontalis interna in a 74-year-old woman Specialty Radiology Hyperostosis frontalis interna is a common, benign thickening of the inner side of the frontal bone of the skull . It is found predominantly in women after menopause and is usually asymptomatic. Mostly frequently it is found as an incidental finding discovered during an X-ray or CT scan of the skull. Additional images [ edit ] Hyperostosis frontalis at CT References [ edit ] She R, Szakacs J (2004). "Hyperostosis frontalis interna: case report and review of literature".

Since hyperprolactinemia was found in many of these cases, the authors suggested that this and other features of the syndrome such as hirsutism, diabetes, and menstrual troubles may be related to hyperprolactinemia.

Overview A seborrheic keratosis (seb-o-REE-ik ker-uh-TOE-sis) is a common noncancerous (benign) skin growth. People tend to get more of them as they get older. Seborrheic keratoses are usually brown, black or light tan. The growths (lesions) look waxy or scaly and slightly raised. They appear gradually, usually on the face, neck, chest or back. Seborrheic keratoses on the back Seborrheic keratoses are very common on the back. They appear as waxy light tan, brown or black growths that look as if they were dripped onto the skin by a candle.

Seborrheic keratosis Other names Seborrheic verruca, basal cell papilloma, senile wart, [1] [2] : 767 [3] : 637 Multiple seborrheic keratoses on the dorsum of a patient with Leser–Trélat sign . Specialty Dermatology A seborrheic keratosis is a non-cancerous ( benign ) skin tumour that originates from cells in the outer layer of the skin . Like liver spots , seborrheic keratoses are seen more often as people age. [4] The tumours (also called lesions ) appear in various colours, from light tan to black. They are round or oval, feel flat or slightly elevated, like the scab from a healing wound, and range in size from very small to more than 2.5 centimetres (1 in) across. [5] They can often come in association with other skin conditions, including basal cell carcinoma . [6] Rarely seborrheic keratosis and basal cell carcinoma occur at the same location. At clinical examination the differential diagnosis includes warts [4] and melanoma .

Cryptogenic cirrhosis is a condition that impairs liver function. People with this condition develop irreversible liver disease caused by scarring of the liver (cirrhosis), typically in mid- to late adulthood. The liver is a part of the digestive system that helps break down food, store energy, and remove waste products, including toxins. Minor damage to the liver can be repaired by the body. However, severe or long-term damage can lead to the replacement of normal liver tissue with scar tissue. In the early stages of cryptogenic cirrhosis, people often have no symptoms because the liver has enough normal tissue to function. Signs and symptoms become apparent as more of the liver is replaced by scar tissue.

The mother, of Scottish and Irish extraction, had a single sib, a brother who died at the age of 10 years of cirrhosis. Copper-overload is a feature of the Indian childhood cirrhosis also. ... Gahl et al. (1988) studied a 2-year-old boy with features of ICC whose parents were third cousins of European descent.

Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining.

Familial cirrhosis Specialty Hepatology Familial cirrhosis is a form of liver disease that is inherited and the liver scarring is not caused by any obvious disease process. This type of cirrhosis is a keratin disease . Damage progresses until function becomes impaired. Current cirrhosis treatment is aimed at managing complications as well as chronic poor health related to liver damage. Treatments include abstinence from alcohol, nutritional supplement, identification of any identifiable disease process, management of portal hypertension, and liver transplantation. It is associated with KRT8 and KRT18 . [1] References [ edit ] ^ Online Mendelian Inheritance in Man (OMIM): 215600 External links [ edit ] Classification D ICD - 9-CM : 571.5 OMIM : 215600 MeSH : C566123 v t e Cytoskeletal defects Microfilaments Myofilament Actin Hypertrophic cardiomyopathy 11 Dilated cardiomyopathy 1AA DFNA20 Nemaline myopathy 3 Myosin Elejalde syndrome Hypertrophic cardiomyopathy 1, 8, 10 Usher syndrome 1B Freeman–Sheldon syndrome DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 May–Hegglin anomaly Troponin Hypertrophic cardiomyopathy 7, 2 Nemaline myopathy 4, 5 Tropomyosin Hypertrophic cardiomyopathy 3 Nemaline myopathy 1 Titin Hypertrophic cardiomyopathy 9 Other Fibrillin Marfan syndrome Weill–Marchesani syndrome Filamin FG syndrome 2 Boomerang dysplasia Larsen syndrome Terminal osseous dysplasia with pigmentary defects IF 1/2 Keratinopathy ( keratosis , keratoderma , hyperkeratosis ): KRT1 Striate palmoplantar keratoderma 3 Epidermolytic hyperkeratosis IHCM KRT2E ( Ichthyosis bullosa of Siemens ) KRT3 ( Meesmann juvenile epithelial corneal dystrophy ) KRT4 ( White sponge nevus ) KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10 ( Epidermolytic hyperkeratosis ) KRT12 ( Meesmann juvenile epithelial corneal dystrophy ) KRT13 ( White sponge nevus ) KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma multiplex ) KRT18 ( Familial cirrhosis ) KRT81 / KRT83 / KRT86 ( Monilethrix ) Naegeli–Franceschetti–Jadassohn syndrome Reticular pigmented anomaly of the flexures 3 Desmin : Desmin-related myofibrillar myopathy Dilated cardiomyopathy 1I GFAP : Alexander disease Peripherin : Amyotrophic lateral sclerosis 4 Neurofilament : Parkinson's disease Charcot–Marie–Tooth disease 1F, 2E Amyotrophic lateral sclerosis 5 Laminopathy : LMNA Mandibuloacral dysplasia Dunnigan Familial partial lipodystrophy Emery–Dreifuss muscular dystrophy 2 Limb-girdle muscular dystrophy 1B Charcot–Marie–Tooth disease 2B1 LMNB Barraquer–Simons syndrome LEMD3 Buschke–Ollendorff syndrome Osteopoikilosis LBR Pelger–Huet anomaly Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin Charcot–Marie–Tooth disease 2A Hereditary spastic paraplegia 10 Dynein Primary ciliary dyskinesia Short rib-polydactyly syndrome 3 Asphyxiating thoracic dysplasia 3 Other Tauopathy Cavernous venous malformation Membrane Spectrin : Spinocerebellar ataxia 5 Hereditary spherocytosis 2, 3 Hereditary elliptocytosis 2, 3 Ankyrin : Long QT syndrome 4 Hereditary spherocytosis 1 Catenin APC Gardner's syndrome Familial adenomatous polyposis plakoglobin ( Naxos syndrome ) GAN ( Giant axonal neuropathy ) Other desmoplakin : Striate palmoplantar keratoderma 2 Carvajal syndrome Arrhythmogenic right ventricular dysplasia 8 plectin : Epidermolysis bullosa simplex with muscular dystrophy Epidermolysis bullosa simplex of Ogna plakophilin : Skin fragility syndrome Arrhythmogenic right ventricular dysplasia 9 centrosome : PCNT ( Microcephalic osteodysplastic primordial dwarfism type II ) Related topics: Cytoskeletal proteins v t e Diseases of the digestive system Upper GI tract Esophagus Esophagitis Candidal Eosinophilic Herpetiform Rupture Boerhaave syndrome Mallory–Weiss syndrome UES Zenker's diverticulum LES Barrett's esophagus Esophageal motility disorder Nutcracker esophagus Achalasia Diffuse esophageal spasm Gastroesophageal reflux disease (GERD) Laryngopharyngeal reflux (LPR) Esophageal stricture Megaesophagus Esophageal intramural pseudodiverticulosis Stomach Gastritis Atrophic Ménétrier's disease Gastroenteritis Peptic (gastric) ulcer Cushing ulcer Dieulafoy's lesion Dyspepsia Pyloric stenosis Achlorhydria Gastroparesis Gastroptosis Portal hypertensive gastropathy Gastric antral vascular ectasia Gastric dumping syndrome Gastric volvulus Buried bumper syndrome Gastrinoma Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine ( Duodenum / Jejunum / Ileum ) Enteritis Duodenitis Jejunitis Ileitis Peptic (duodenal) ulcer Curling's ulcer Malabsorption : Coeliac Tropical sprue Blind loop syndrome Small bowel bacterial overgrowth syndrome Whipple's Short bowel syndrome Steatorrhea Milroy disease Bile acid malabsorption Large intestine ( Appendix / Colon ) Appendicitis Colitis Pseudomembranous Ulcerative Ischemic Microscopic Collagenous Lymphocytic Functional colonic disease IBS Intestinal pseudoobstruction / Ogilvie syndrome Megacolon / Toxic megacolon Diverticulitis / Diverticulosis / SCAD Large and/or small Enterocolitis Necrotizing Gastroenterocolitis IBD Crohn's disease Vascular : Abdominal angina Mesenteric ischemia Angiodysplasia Bowel obstruction : Ileus Intussusception Volvulus Fecal impaction Constipation Diarrhea Infectious Intestinal adhesions Rectum Proctitis Radiation proctitis Proctalgia fugax Rectal prolapse Anismus Anal canal Anal fissure / Anal fistula Anal abscess Hemorrhoid Anal dysplasia Pruritus ani GI bleeding Blood in stool Upper Hematemesis Melena Lower Hematochezia Accessory Liver Hepatitis Viral hepatitis Autoimmune hepatitis Alcoholic hepatitis Cirrhosis PBC Fatty liver NASH Vascular Budd–Chiari syndrome Hepatic veno-occlusive disease Portal hypertension Nutmeg liver Alcoholic liver disease Liver failure Hepatic encephalopathy Acute liver failure Liver abscess Pyogenic Amoebic Hepatorenal syndrome Peliosis hepatis Metabolic disorders Wilson's disease Hemochromatosis Gallbladder Cholecystitis Gallstone / Cholelithiasis Cholesterolosis Adenomyomatosis Postcholecystectomy syndrome Porcelain gallbladder Bile duct / Other biliary tree Cholangitis Primary sclerosing cholangitis Secondary sclerosing cholangitis Ascending Cholestasis / Mirizzi's syndrome Biliary fistula Haemobilia Common bile duct Choledocholithiasis Biliary dyskinesia Sphincter of Oddi dysfunction Pancreatic Pancreatitis Acute Chronic Hereditary Pancreatic abscess Pancreatic pseudocyst Exocrine pancreatic insufficiency Pancreatic fistula Other Hernia Diaphragmatic Congenital Hiatus Inguinal Indirect Direct Umbilical Femoral Obturator Spigelian Lumbar Petit's Grynfeltt-Lesshaft Undefined location Incisional Internal hernia Richter's Peritoneal Peritonitis Spontaneous bacterial peritonitis Hemoperitoneum Pneumoperitoneum This article about a disease , disorder, or medical condition is a stub .

For a discussion of genetic heterogeneity of EDMD, see 310300. Clinical Features Zhang et al. (2007) reported a man who presented with proximal upper limb weakness and winged scapulae at age 8 years. ... Overall, the findings showed the importance of the nesprin/emerin/lamin complex in the maintenance of nuclear stability, and suggested that changes in the binding stoichiometry of these proteins is a feature of EDMD. Zhang et al. (2007) concluded that the disorder is caused in part by uncoupling of the nucleoskeleton and cytoskeleton.

For a discussion of genetic heterogeneity of EDMD, see 310300. Clinical Features Zhang et al. (2007) reported a man with onset of a slowly progressive muscular dystrophy from age 11 years. ... Overall, the findings showed the importance of the nesprin/emerin/lamin complex in the maintenance of nuclear stability, and suggested that changes in the binding stoichiometry of these proteins is a feature of EDMD. Zhang et al. (2007) concluded that the disorder is caused in part by uncoupling of the nucleoskeleton and cytoskeleton.

Straub et al. (2018), on behalf of the LGMD workshop study group, reclassified LGMD1B as EDMD2. Clinical Features Jennekens et al. (1975) reported 2 unrelated Dutch families in which 26 members had slowly progressive muscle weakness with scapuloilioperoneal distribution and late-onset cardiomyopathy. ... Biopsies of skeletal muscle and spinal cord confirmed a myopathic basis of the muscular atrophy. The authors noted some unique features in this family, including early age at onset, rapid progression, early muscle contractures, and a high incidence of severe cardiomyopathy. ... Examination at age 30 showed marked midface hypoplasia with a broad nasal bridge. She also had features of lipodystrophy (FPLD2; 151660), with increased subcutaneous adipose tissue in the back and facial region and extremely thin extremities. ... The second group included patients with later or adult onset who had cardiac disorders or a limb-girdle myopathy, consistent with LGMD1B. Features common to both groups included involvement of the neck or paravertebral muscles and an age-dependent development of cardiomyopathy, most after age 25 years. ... Overall, the findings showed the importance of the nesprin/emerin/lamin complex in the maintenance of nuclear stability, and suggested that changes in the binding stoichiometry of these proteins is a common feature of EDMD. Zhang et al. (2007) concluded that the disorder is caused in part by uncoupling of the nucleoskeleton and cytoskeleton.

For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). Clinical Features Chen et al. (2018) described 2 46,XX sisters and their female cousin from a large consanguineous Israeli-Christian Arab family, who had delayed puberty with elevated gonadotropins and small uterus and ovaries. ... INHERITANCE - Autosomal recessive CHEST Breasts - Delayed breast development GENITOURINARY Internal Genitalia (Female) - Small uterus - Small or nonvisualized ovaries - Fibrotic ovaries - No follicles in ovaries SKELETAL - Delayed bone age ENDOCRINE FEATURES - Primary amenorrhea - Delayed puberty - Elevated luteinizing hormone (LH) levels - Elevated follicle-stimulating hormone (FSH) levels - Low or nondetectable estradiol (E2) levels MOLECULAR BASIS - Caused by mutation in the mitochondrial ribosomal protein-S22 gene (MRPS22, 605810.0003 ) ▲ Close

See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (233400). Clinical Features Elliott et al. (1959) reported the condition in 3 sisters who had normal stature and sex chromatin but had never menstruated and had severe osteoporosis. ... Each had a normal female 46,XX karyotype. Somatic features of Turner syndrome were not found.

For a discussion of genetic heterogeneity of ovarian dysgenesis, see ODG1 (233300). Clinical Features Weinberg-Shukron et al. (2015) studied a girl from a large consanguineous Palestinian family who presented at age 15 years with absence of spontaneous puberty and had minimal breast development, pubertal hair at Tanner stage II, primary amenorrhea, and elevated luteinizing hormone (LH; see 152780) and follicle-stimulating hormone (FSH; see 136530) levels. ... INHERITANCE - Autosomal recessive GENITOURINARY Internal Genitalia (Female) - Absent or streak ovaries - Small uterus ENDOCRINE FEATURES - No spontaneous puberty - Elevated luteinizing hormone (LH, see 152780 ) levels - Elevated follicle-stimulating hormone (FSH, see 136530 ) levels MISCELLANEOUS - Male fertility does not appear to be affected - Based on report of one Palestinian family (last curated August 2018) MOLECULAR BASIS - Caused by mutation in the 107-kD nucleoporin gene (NUP107, 607617.0005 ) ▲ Close

., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000). Clinical Features Di Pasquale et al. (2004) reported 2 sisters with hypergonadotropic ovarian failure due to ovarian dysgenesis. ... INHERITANCE - X-linked GENITOURINARY Internal Genitalia (Female) - Delayed puberty - Primary amenorrhea - Secondary amenorrhea - Small or streak ovaries - Ovarian failure, premature - Absent follicles - Hypoplastic uterus SKIN, NAILS, & HAIR Hair - Mild hirsutism - Absent pubic and axillary hair ENDOCRINE FEATURES - Delayed puberty - Premature ovarian failure - Low estradiol (E2) levels - Elevated follicle-stimulating hormone (FSH) levels - Elevated luteinizing hormone (LH) levels MOLECULAR BASIS - Caused by mutation in the bone morphogenetic protein 15 gene (BMP15, 300247.0001 ) ▲ Close

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

For a discussion of genetic heterogeneity of white sponge nevus, see WSN1 (193900). Clinical Features Shibuya et al. (2003) described a Japanese family in which a 36-year-old woman, her 17-year-old daughter, and her 14-year-old son each had unexplained white oral lesions.

White sponge nevus (WSN) is a rare and autosomal dominant genetic disease in which the oral mucosa is white or greyish, thickened, folded, and spongy. The onset is early in life, and both sexes are affected equally. Other common sites include the tongue, floor of the mouth, and alveolar mucosa.

White sponge nevus Other names White sponge naevus , Cannon's disease , Hereditary leukokeratosis of mucosa , White sponge nevus of Cannon , Familial white folded dysplasia , [1] [2] or Oral epithelial nevus [3] White sponge nevus has an autosomal dominant pattern of inheritance. Specialty Oral medicine White sponge nevus WSN, is an autosomal dominant [4] condition of the oral mucosa (the mucous membrane lining of the mouth). It is caused by a mutations in certain genes coding for keratin , which causes a defect in the normal process of keratinization of the mucosa. This results in lesions which are thick, white and velvety on the inside of the cheeks within the mouth. Usually, these lesions are present from birth or develop during childhood.

White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected.