Coxoauricular syndrome

MedGen UID:: 343827
•Concept ID:: C1852513
•: Congenital Abnormality; Disease or Syndrome

Synonym:	Coxoauricular Syndrome
SNOMED CT:	Coxoauricular syndrome (732248005)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0007392
OMIM®:	122780
Orphanet:	ORPHA1508

Definition

An extremely rare primary bone defect described only in a mother and her three daughters to date. The disease has characteristics of short stature, hip dislocation, minor vertebral and pelvic changes and microtia with hearing loss. There have been no further descriptions in the literature since 1981. [from SNOMEDCT_US]

Clinical features

From HPO

Short stature

MedGen UID:: 87607
•Concept ID:: C0349588
•: Finding

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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Microtia

MedGen UID:: 57535
•Concept ID:: C0152423
•: Congenital Abnormality

Underdevelopment of the external ear.

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Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Hip dislocation

MedGen UID:: 42455
•Concept ID:: C0019554
•: Injury or Poisoning

Displacement of the femur from its normal location in the hip joint.

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Abnormality of the musculoskeletal system
- Hip dislocation
Ear malformation
- Hearing impairment
- Microtia
Growth abnormality
- Short stature

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCoxoauricular syndrome

Primary bone dysplasia with multiple joint dislocations
- Coxoauricular syndrome

Follow this link to review classifications for Coxoauricular syndrome in Orphanet.

Professional guidelines