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Items: 7

1.

Symphalangism-brachydactyly syndrome

Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). Genetic Heterogeneity of Multiple Synostoses Syndrome Other forms of multiple synostoses syndrome include SYNS2 (610017), caused by mutation in the GDF5 gene (601146) on chromosome 20q11; SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q12; and SYNS4 (617898), caused by mutation in the GDF6 gene (601147) on chromosome 8q22. [from OMIM]

MedGen UID:
90977
Concept ID:
C0342282
Disease or Syndrome
2.

COG8-congenital disorder of glycosylation

Syndrome with characteristics of severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products. So far, only two cases have been described. The disease is caused by mutations in the COG8 gene, which encodes a subunit of the COG complex. This complex is involved vesicle transport in the Golgi apparatus. [from SNOMEDCT_US]

MedGen UID:
409971
Concept ID:
C1970021
Disease or Syndrome
3.

Warburg micro syndrome 2

RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus. [from GeneReviews]

MedGen UID:
481844
Concept ID:
C3280214
Disease or Syndrome
4.

Chromosome 9p deletion syndrome

A rare chromosomal anomaly with characteristics of psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. [from SNOMEDCT_US]

MedGen UID:
167073
Concept ID:
C0795830
Disease or Syndrome
5.

Pili torti-developmental delay-neurological abnormalities syndrome

Abnormal hair, joint laxity, and developmental delay (HJDD) is characterized by normal hair at birth that gradually becomes sparse, twisted, brittle, and easily broken, with pili torti and trichorrhexis nodosa observed on light microscopy. Other features include increased joint mobility and cognitive delay (Sharma et al., 2019). [from OMIM]

MedGen UID:
342358
Concept ID:
C1849811
Disease or Syndrome
6.

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities

Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022). [from OMIM]

MedGen UID:
1824024
Concept ID:
C5774251
Disease or Syndrome
7.

Clinodactyly of the 4th toe

Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). [from HPO]

MedGen UID:
866488
Concept ID:
C4020740
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