Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

MedGen UID:: 355918
•Concept ID:: C1865133
•: Disease or Syndrome

Synonyms:	Camptodactyly, joint contractures, facial skeletal defects; Rozin Hertz Goodman syndrome
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0011262
OMIM®:	602612
Orphanet:	ORPHA1323

Definition

A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). [from ORDO]

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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCamptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

Dysostosis with limb anomaly as a major feature
- Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

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Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye

Definition

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