A number sign (#) is used with this entry because of evidence that white sponge nevus-2 (WSN2) is caused by heterozygous mutation in the KRT13 gene (148065) on chromosome 17q21. 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. The mother noted onset of oral lesions in early adolescence, whereas the oral lesions of her children were reported as congenital. The lesions in all 3 patients were asymptomatic and consisted of soft, white, spongy mucosal plaques with thick, folded surfaces.
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 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.
A number sign (#) is used with this entry because of evidence that white sponge nevus-1 (WSN1) is caused by heterozygous mutation in the keratin-4 gene (KRT4; 123940) on chromosome 12q13. Description White sponge nevus is a rare autosomal dominant disorder of noncornifying squamous epithelial differentiation that presents clinically as white, soft, thick plaques of the oral mucosa. Less frequently, the mucous membranes of the nose, esophagus, genitalia, and rectum are involved. Histopathologic features, including epithelial thickening, parakeratosis, extensive vacuolization of the suprabasal keratinocytes, and compact aggregates of keratin intermediate filaments in the upper spinus layers resemble those found in epidermal disorders shown to be associated with keratin defects (summary by Richard et al., 1995). Genetic Heterogeneity of White Sponge Nevus White sponge nevus-2 (WSN2; 615785) is caused by mutation in the KRT13 gene (148065) on chromosome 17q21.
A rare, congenital, vascular anomaly syndrome characterized by venous or, on occasion, arterial malformations which lead to soft tissue hypertrophy and bone hypoplasia.
47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
Not to be confused with XXY (2 Xs, Klinefelter syndrome ). "Xyy" redirects here. For the color model, see XyY . ... Differential diagnosis of tall stature and overgrowth syndromes. Postnatal overgrowth leading to childhood tall stature—includes: Klinefelter syndrome (XXY), SHOX excess syndromes, XYY. ... "Tall stature, insulin resistance, and disturbed behavior in a girl with the triple X syndrome harboring three SHOX genes: offspring of a father with mosaic Klinefelter syndrome but with two maternal X chromosomes". ... "Novel genetic aspects of Klinefelter's syndrome" . Mol Hum Reprod . 16 (6): 386–95. doi : 10.1093/molehr/gaq019 . ... We therefore planned to confirm and extend her studies. Syndrome Status for the XYY The XXY male has long been thought to display a constellation of symptoms that makes him diagnosable; that is, he has achieved syndrome status.
A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability.
Stiff thumbs were accompanied by brachydactyly type A1 (112500) and mental retardation in females in 3 generations of the family reported by Piussan et al. (1983). This is clearly a different disorder from C. S. Lewis symphalangism (185650). Barber et al. (1990) reported an isolated case of stiff thumbs and developmental delay which they thought represented the same disorder as that reported by Piussan et al. (1983). Since the father was 59 years old, new dominant mutation was suspected. Limbs - Stiff thumbs - Brachydactyly type A1 Neuro - Mental retardation Inheritance - Autosomal dominant ▲ Close
Pseudo-Meigs syndrome is a rare neoplastic disease characterized by the presence of a benign or malignant, pelvic or abdominal tumor (other than ovarian fibroma or fibroma-like and localized outside of the ovaries, fallopian tubes, and broad ligaments) associated with hydrothorax and ascites that resolve after tumor resection.
Clinical Features King and Lee (1987) described a 5-generation Chinese family in which at least 21 individuals had generalized multiple steatocystomas (184500) and natal teeth. There were no manifestations to suggest pachyonychia congenita-2 (PC2; 167210), which is also accompanied by natal teeth. McDonald and Reed (1976) reported the same combination in a single case. INHERITANCE - Autosomal dominant HEAD & NECK Teeth - Natal teeth SKIN, NAILS, & HAIR Skin - Steatocystomas Nails - Normal nails ▲ Close
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum.
Clinical Features In 5 members of 3 successive generations, Whyte et al. (1989, 1990) described congenital hypotrichosis and spondyloepimetaphyseal dysplasia resulting in mild rhizomelic short stature. The first affected member in the family, the 65-year-old grandmother, was reportedly 147 cm tall. Her affected son was 157.5 cm tall with hypotrichosis. He had 2 affected sons and an affected daughter by 2 different wives. Skeletal features became clinically apparent during early childhood and predominantly involved limited abduction of the hips. Rhizomelia affected the upper limbs more severely than the lower limbs.
Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.
The combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders. ... Because these conditions have a similar pattern of signs and symptoms and are caused by mutations in the same gene, many researchers believe that they are all part of a single syndrome with variable signs and symptoms.
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome is a rare developmental defect of the eye characterized by bilateral microcornea, posterior megalolenticonus, persistent fetal vasculature (extending from the posterior pole of the lens to the optic disc) and posterior chorioretinal coloboma.
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of severe intellectual disability, strabismus, and anterior maxillary protrusion with vertical maxillary excess, open bite, and prominent crowded teeth.
Clinical Features Basel-Vanagaite et al. (2007) reported 7 sibs, born of consanguineous parents of Israeli Arab descent, with a syndrome characterized by severe mental retardation, anterior maxillary protrusion, and strabismus. ... Linkage analysis excluded the SOBP locus in 22 additional families with syndromic intellectual disability. INHERITANCE - Autosomal recessive HEAD & NECK Face - Anterior maxillary protrusion Ears - Mild cochlear hearing loss (1 patient) Eyes - Strabismus - Esotropia (1 patient) - Amblyopia (1 patient) - Poor vision (1 patient) - Hypermetropia (1 patient) Mouth - Vertical maxillary excess Teeth - Open bite - Prominent, crowded teeth SKELETAL - Hyperlaxity NEUROLOGIC Central Nervous System - Mental retardation, severe - Delayed psychomotor development - Delayed speech development - Poor speech - Temporal lobe epilepsy (1 patient) Behavioral Psychiatric Manifestations - Short attention span - Psychosis (1 patient) MISCELLANEOUS - One consanguineous family has been reported (last curated December 2010) MOLECULAR BASIS - Caused by mutation in the sine oculis-binding protein homolog gene (SOBP, 613667.0001 ) ▲ Close
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.
Houlston et al. (1994) listed various reasons for concluding that the disorder in these sibs is distinct from that in several other syndromes with overlapping manifestations.
The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly.
A number sign (#) is used with this entry because of evidence that holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is caused by heterozygous mutation in the CNOT1 gene (604917) on chromosome 16q21. Description Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset insulin-dependent diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
Clinical Features Pauli et al. (1983) described an agnathia-holoprosencephaly syndrome in 2 stillborn sisters. One sister also had cardiac anomalies, stage-2 malrotation of the gut with a common mesentery, and a hypoplastic right kidney. ... Ozden et al. (2000) reported a premature male infant with this syndrome who died soon after delivery. The infant had synophthalmia with frontal proboscis and agnathia. ... Guion-Almeida et al. (2002) compared the findings in patients with auriculocondylar syndrome (602483) with those in the mother and daughter reported by Erlich et al. (2000) as having the dysgnathia complex. They concluded that the patients of Erlich et al. (2000) actually had auriculocondylar syndrome. Schiffer et al. (2002) reported detailed findings from a sporadic case of agnathia-otocephaly complex. ... Cytogenetics Pauli et al. (1983) originally suggested an autosomal recessive etiology of the agnathia-holoprosencephaly syndrome in 2 stillborn sisters. However, repeat prometaphase chromosome studies showed a balanced translocation in the father of the affected individuals and an unbalanced translocation in the second of the 2 sibs.
Tremor-nystagmus-duodenal ulcer syndrome is a rare hyperkinetic movement disorder characterized by mild to severe, progressive essential tremor, nystagmus (principally horizontal), duodenal ulceration and a narcolepsy-like sleep disturbance.
Clinical Features Neuhauser et al. (1976) described tremor, nystagmus, and duodenal ulcer in multiple persons in a kindred. Essential tremor developed in 12 of 17 affected members. Alcohol controlled the tremor temporarily. Severely affected members became alcoholics. The most severely affected persons showed cerebellar signs. Nystagmus occurred often in the absence of tremor and was usually congenital. Duodenal ulcer appeared to be a pleiotropic effect. It sometimes preceded onset of tremor.
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia.
In 6 of 7 sibs of a Mexican family, Aguilar et al. (1978) described mental retardation, epilepsy, telangiectases limited to the palpebral conjunctiva, diminished serum IgA, and peculiar facies, including synophrys. The parents, who were not related, and 1 sib were normal. HEENT - Conjunctival telangiectasia - Synophrys Neuro - Seizures - Mental retardation Facies - Peculiar facies Lab - Low serum IgA Inheritance - Autosomal recessive ▲ Close
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.
17q12 duplication occurs when a person has an extra copy of a portion of chromosome 17 . Our genetic information is organized in structures called chromosomes. People with 17q12 duplication have an extra piece of genetic information from chromosome 17. Some people with this duplication do not have any signs or symptoms. Other people may have symptoms including intellectual disability, developmental delay, and behavioral challenges. Some people with 17q12 duplication may also have vision problems. Rarely, people with 17q12 duplication may also have other health problems, such as problems with the heart or kidneys. 17q12 duplication occurs when a portion of chromosome 17 is duplicated.
(A missing copy of this segment causes a related chromosomal condition called 17q12 deletion syndrome.) The segment of 17q12 that is most commonly duplicated includes at least 15 genes.