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Items: 5

1.

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
2.

CODAS syndrome

CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015). [from OMIM]

MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
3.

Sweeney-Cox syndrome

Sweeney-Cox syndrome (SWCOS) is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017). [from OMIM]

MedGen UID:
1625659
Concept ID:
C4540299
Disease or Syndrome
4.

Osteogenesis imperfecta, type 20

Osteogenesis imperfecta type XX (OI20) is a progressive deforming bone disorder characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography. Several patients have died due to respiratory failure (Moosa et al., 2019). [from OMIM]

MedGen UID:
1684751
Concept ID:
C5231439
Disease or Syndrome
5.

Crumpled ear

Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. [from HPO]

MedGen UID:
869737
Concept ID:
C4024166
Finding
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