Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome- MedGen UID:
- 490089
- •Concept ID:
- C0796203
- •
- Disease or Syndrome
This syndrome is characterized by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).
Schilbach-Rott syndrome- MedGen UID:
- 371716
- •Concept ID:
- C1834038
- •
- Disease or Syndrome
Schilbach-Rott syndrome (SBRS) is an autosomal dominant disorder characterized by hypotelorism, epicanthal folds, cleft palate, dysmorphic facies, and hypospadias in males. The phenotype is variable; mild mental retardation has been reported (summary by Shkalim et al., 2009).
Scalp-ear-nipple syndrome- MedGen UID:
- 357183
- •Concept ID:
- C1867020
- •
- Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Chromosome 1q41-q42 deletion syndrome- MedGen UID:
- 382704
- •Concept ID:
- C2675857
- •
- Disease or Syndrome
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
Oculodentodigital dysplasia, autosomal recessive- MedGen UID:
- 412708
- •Concept ID:
- C2749477
- •
- Disease or Syndrome
Autosomal recessive form of oculodentodigital dysplasia.
Chromosome 2q31.1 duplication syndrome- MedGen UID:
- 462290
- •Concept ID:
- C3150940
- •
- Disease or Syndrome
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome- MedGen UID:
- 903767
- •Concept ID:
- C4225396
- •
- Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).
Tessadori-Van Haaften neurodevelopmental syndrome 4- MedGen UID:
- 1804234
- •Concept ID:
- C5677016
- •
- Disease or Syndrome
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome-4 (TEBIVANED4) is characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Some patients have visual or hearing deficits. The severity and manifestations of the disorder are highly variable (Tessadori et al., 2022).
For a discussion of genetic heterogeneity of TEBIVANED, see TEBIVANED1 (619758).
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures- MedGen UID:
- 1823986
- •Concept ID:
- C5774213
- •
- Disease or Syndrome
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures (NEDHLSS) is characterized by global developmental delay apparent from infancy. Affected individuals show severe hypotonia with delayed walking or inability to walk, poor or absent speech, and impaired intellectual development with behavioral abnormalities. Most patients have early-onset seizures, mild skeletal defects that are usually distal, and nonspecific dysmorphic features. More severely affected individuals have additional congenital abnormalities; however, cardiac involvement is rare (summary by Rodan et al., 2021).