Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia).
Description Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. ... Clinical Features Boissel et al. (2009) reported a consanguineous Palestinian Arab family in which 9 individuals had a severe multiple congenital anomaly syndrome with death by age 3 years. Clinical features included coarse face with anteverted nostrils, thin vermilion border, prominent alveolar ridge, retrognathia, and protruding tongue. ... Daoud et al. (2016) reported a 21-month-old girl, born of consanguineous Tunisian parents, with a severe congenital anomaly syndrome characterized by growth retardation, failure to thrive, and severely delayed global development with lack of speech.
Although there are many syndromes of renal and/or genitorenal anomalies with radial ray dysostoses (Evans et al., 1992), the association of renal anomalies with ulnar ray dysgenesis has been found to occur mainly in 2 entities, the ulnar-mammary syndrome (181450) and Weyers ulnar ray/oligodactyly syndrome (602418). Kaplan and Bellah (1999) described brothers with variable expression of a possibly unique syndrome: an acrorenal syndrome with ulnar dysgenesis, oligodactyly, polydactyly, and dysplastic kidneys.
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. ... It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency.
This condition, in which the hypogonadism is secondary and polydactyly is not present, is similar to, but distinct from, the syndromes of Laurence-Moon (245800) and Biedl-Bardet (209900). It is distinguished from Alstrom syndrome (203800) by the presence of mental retardation and the absence of renal insufficiency. There are some similarities to Usher syndrome (276900). INHERITANCE - Autosomal recessive GROWTH Height - Short stature HEAD & NECK Face - Coarse facies Ears - Labyrinthine deafness Eyes - Pigmentary retinopathy - Subcapsular cataracts - Nystagmus CHEST Breasts - Gynecomastia ABDOMEN Liver - Increased echogenicity GENITOURINARY Internal Genitalia (Female) - Polycystic ovaries SKELETAL Hands - Broad hands Feet - Broad feet SKIN, NAILS, & HAIR Skin - Acanthosis nigricans - Dry skin Hair - Sparse hair NEUROLOGIC - Mental retardation - Cerebral atrophy - Cerebellar atrophy ENDOCRINE FEATURES - Insulin-resistant diabetes - Secondary amenorrhea - Hypergonadotropic hypogonadism LABORATORY ABNORMALITIES - Hyperinsulinism - Mildly elevated transaminases - Decreased insulin receptor binding ▲ Close
Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age.
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome is an extremely rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis.
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.
Clinical Features Tyshchenko et al. (2011) reported 3 patients, a mother and daughter and an unrelated male, with a syndrome characterized by distinctive facial features, cleft palate, conductive hearing loss, and mild developmental delay. ... Inheritance Tyshchenko et al. (2011) suggested that the syndrome they described in a mother and daughter and an unrelated male was inherited in an autosomal dominant manner.
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies.
Fetal carbamazepine syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to carbamazepine and that is characterized by facial dysmorphism, with some similarities to that seen in fetal valproate syndrome (see this term), such as epicanthal folds, upward slanting palpebral fissures, short nose, micrognathia and malar hypoplasia, as well as nail dysplasia and major anomalies including cleft lip/palate, neural tube defects and cardiac anomalies.
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners.
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography.
A number sign (#) is used with this entry because of evidence that sacral agenesis with vertebral anomalies (SAVA) is caused by homozygous mutation in the T gene (601397) on chromosome 6q27. Clinical Features Postma et al. (2014) reported 4 children from 3 consanguineous families with abnormalities of the spine, including sacral agenesis, abnormal ossification of all vertebral bodies, and a persistent notochordal canal during development. Sacral agenesis and a persistent notochord were detected prenatally in 3 of the patients. During ultrasound follow-up, the tubular notochord structure became progressively less visible and was gradually replaced by vertebral bodies. Two sibs died in the neonatal period. MRI of 1 of these infants showed sacral and left renal agenesis, persistent cloaca with anal atresia, and vertical clefting of the vertebral bodies.
X-linked intellectual disability-acromegaly-hyperactivity syndrome is characterised by severe intellectual deficit, acromegaly and hyperactivity. The syndrome has been described in two half-brothers.
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay.
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. Epidemiology It has been described in 3 sibs (two males and one female). Clinical description The syndrome is characterized by absence or hypoplasia of the tibia, pre and postaxial polydactyly of the hands and/or feet, syndactyly of the toes, shortening and bowing of other long bones, and retrocerebellar arachnoid cyst.
They concluded that this represents a 'new' autosomal recessive syndrome. It should be noted that the 2 males who were investigated by the authors both showed retrocerebellar arachnoid cysts.
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.
Figuera et al. (1993) corroborated and further delineated this syndrome on the basis of 3 sibs from a Mexican family: 2 girls, aged 18 and 9 years, and a 7-year-old boy. ... In 2 Brazilian brothers born to consanguineous parents, Richieri-Costa et al. (1994) reported a seemingly 'new' syndrome characterized by thin/long face, small ears, blepharophimosis, malar hypoplasia, long neck, pectus excavatum, brachycamptodactyly, and sacral dimple. ... Richieri-Costa et al. (1994) referred to the condition as faciothoracoskeletal syndrome. Ramirez-Duenas and Cantu (1995) suggested, and Richieri-Costa (1995) agreed, that the entity named faciothoracoskeletal syndrome is the same as Guadalajara camptodactyly syndrome type I. ... The authors considered the clinical features in this patient to be consistent with the diagnosis of Guadalajara camptodactyly syndrome type I. Also see Guadalajara camptodactyly syndrome type II (211920) and type III (611929).
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.
A number sign (#) is used with this entry because of evidence that Meckel syndrome-12 (MKS12) is caused by compound heterozygous mutation in the KIF14 gene (611279) on chromosome 1q31. ... For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000). Clinical Features Filges et al. (2014) reported 2 sisters, conceived by unrelated Caucasian parents, with a lethal fetal congenital anomaly syndrome.
Shell nail syndrome Specialty Dermatology Shell nail syndrome is characterized by a nail that resembles a clubbed nail, but in which the nail bed is atrophic instead of being bulbous proliferation of the soft tissue, described in association with bronchiectasis . [1] : 782 See also [ edit ] Nail clubbing References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005).
MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.
A number sign (#) is used with this entry because of evidence that MEND syndrome (MEND) is caused by hemizygous mutation in the EBP gene (300205) on chromosome Xp11. ... Arnold et al. (2012) proposed that the phenotype described by Milunsky et al. (2003) and Furtado et al. (2010) be designated MEND syndrome (male EBP disorder with neurologic defects). ... Inheritance The transmission pattern of MEND syndrome in the families reported by Furtado et al. (2010) was consistent with X-linked recessive inheritance. ... In 2 unrelated male infants with MEND syndrome, Furtado et al. (2010) identified a hemizygous missense mutation in the EBP gene (W47C; 300205.0014). ... In 4 affected males from a family with MEND syndrome, Hartill et al. (2014) identified a hemizygous missense mutation in the EBP gene (W47R; 300205.0017).
49, XXXYY syndrome is a chromosome abnormality that occurs when a male inherits two extra copies of the X chromosome and one extra copy of the Y chromosome. ... Signs and symptoms associated with these cases include severe intellectual disability, distinctive facial features, normal to tall stature, gynecomastia, hypogonadism, and behavioral abnormalities. 49, XXXYY syndrome is likely caused by a mistake (called nondisjunction) that occurs at conception or during the formation of the sperm and/or egg.