Coxoauricular syndrome

Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by 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.



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Total: 1 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(29.2%)		 7282772
 A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal.
Duca D, Pana I, Ciovirnache M, Simionesu L, Ispas I, Maxililian C.
Am J Med Genet. 1981;8(2):173-80.
Hip dislocation
Adult Congenital Dysplasia Of The Hip Dermatoglyphics Dwarfism Electroencephalography Females Genes, Dominant Gonadotropins Homo sapiens Middle Aged Noonan Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0002823 Abnormality of femur morphology Very frequent (99-80%)
HP:0002827 Hip dislocation Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0004349 Reduced bone mineral density Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0002827 Hip dislocation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID