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Items: 13

1.

Diastrophic dysplasia

Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. On occasion, the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence. [from GeneReviews]

MedGen UID:
113103
Concept ID:
C0220726
Disease or Syndrome
2.

Congenital contractural arachnodactyly

Congenital contractural arachnodactyly (CCA) appears to comprise a broad phenotypic spectrum. Classic CCA is characterized by arachnodactyly; flexion contractures of multiple joints including elbows, knees, hips, ankles, and/or fingers; kyphoscoliosis (usually progressive); a marfanoid habitus (a long and slender build, dolichostenomelia, pectus deformity, muscular hypoplasia, highly arched palate); and abnormal "crumpled" ears. At the mildest end, parents who are diagnosed retrospectively upon evaluation of their more severely affected child may show a lean body build, mild arachnodactyly, mild contractures without impairment, and minor ear abnormalities. At the most severe end is "severe CCA with cardiovascular and/or gastrointestinal anomalies," a rare phenotype in infants with pronounced features of CCA (severe crumpling of the ears, arachnodactyly, contractures, congenital scoliosis, and/or hypotonia) and severe cardiovascular and/or gastrointestinal anomalies. Phenotypic expression can vary within and between families. [from GeneReviews]

MedGen UID:
67391
Concept ID:
C0220668
Congenital Abnormality
3.

Autosomal recessive multiple pterygium syndrome

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (253290) and nonlethal (Escobar) types. [from OMIM]

MedGen UID:
82696
Concept ID:
C0265261
Congenital Abnormality
4.

COG1 congenital disorder of glycosylation

An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism. [from SNOMEDCT_US]

MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
5.

C syndrome

The C syndrome, also known as Opitz trigonocephaly syndrome, is a malformation syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears (summary by Kaname et al., 2007). C syndrome shows phenotypic overlap with Bohring-Opitz syndrome, or C-like syndrome (605039), a disorder with more severe features than C syndrome, caused by heterozygous mutation in the ASXL1 gene (612990) on chromosome 20q11. [from OMIM]

MedGen UID:
167105
Concept ID:
C0796095
Disease or Syndrome
6.

Stüve-Wiedemann syndrome 1

Stuve-Wiedemann syndrome is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, respiratory distress, and feeding difficulties usually resulting in early death (Dagoneau et al., 2004). See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1; 255800), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (142461) on chromosome 1p36. Genetic Heterogeneity of Stuve-Wiedemann Syndrome Stuve-Wiedemann syndrome-2 (STWS2; 619751) is caused by mutation in the IL6ST gene (600694) on chromosome 5q11. [from OMIM]

MedGen UID:
1803541
Concept ID:
C5676888
Disease or Syndrome
7.

Fuhrmann syndrome

This syndrome has main characteristics of bowing of the femora, aplasia or hypoplasia of the fibulae and poly, oligo and syndactyly. It has been reported in 11 patients. Most of the patients also had a hypoplastic pelvis and hypoplasia of the fingers and fingernails. Some had congenital dislocation of the hip, absence or fusion of tarsal bones, absence of various metatarsals and hypoplasia and aplasia of the toes. The syndrome is caused by a partial loss of WNT7A function (gene mapped to 3p25). [from SNOMEDCT_US]

MedGen UID:
346429
Concept ID:
C1856728
Disease or Syndrome
8.

Whistling face syndrome, recessive form

Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance (summary by Altunhan et al., 2010). [from OMIM]

MedGen UID:
376364
Concept ID:
C1848470
Disease or Syndrome
9.

Cardiac, facial, and digital anomalies with developmental delay

CAFDADD is a multisystemic developmental disorder with variable cardiac and digital anomalies and facial dysmorphism. Some patients may have seizures and ocular/aural abnormalities (Tokita et al., 2018). [from OMIM]

MedGen UID:
1648330
Concept ID:
C4748484
Disease or Syndrome
10.

Digitotalar dysmorphism; ulnar drift, hereditary

MedGen UID:
342156
Concept ID:
C1852085
Disease or Syndrome
11.

Epiphyseal dysplasia, Baumann type

MedGen UID:
322764
Concept ID:
C1835830
Disease or Syndrome
12.

Microcephalic osteodysplastic primordial dwarfism, type 3

MedGen UID:
349167
Concept ID:
C1859439
Disease or Syndrome
13.

Ulnar deviation of finger

Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. [from HPO]

MedGen UID:
68543
Concept ID:
C0231679
Finding
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