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Items: 4

1.

Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly

MedGen UID:
462960
Concept ID:
C3151610
Disease or Syndrome
2.

Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals

MedGen UID:
462959
Concept ID:
C3151609
Disease or Syndrome
3.

Brachydactyly type B1

MedGen UID:
349432
Concept ID:
C1862112
Congenital Abnormality; Finding
4.

Robinow syndrome, autosomal recessive

ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature with growth retardation, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood. [from GeneReviews]

MedGen UID:
341431
Concept ID:
C1849334
Disease or Syndrome
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