Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterised by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance).



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 28

HPO ID Term Frequency
HP:0000047 Hypospadias Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000411 Protruding ear Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001321 Cerebellar hypoplasia Very frequent (99-80%)
HP:0001761 Pes cavus Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002334 Abnormality of the cerebellar vermis Very frequent (99-80%)
HP:0005105 Abnormal nasal morphology Very frequent (99-80%)
HP:0007477 Abnormal dermatoglyphics Very frequent (99-80%)
HP:0011220 Prominent forehead Very frequent (99-80%)
HP:0000164 Abnormality of the dentition Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0001273 Abnormal corpus callosum morphology Frequent (79-30%)
HP:0001596 Alopecia Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001956 Truncal obesity Frequent (79-30%)
HP:0002167 Neurological speech impairment Frequent (79-30%)
HP:0002558 Supernumerary nipple Frequent (79-30%)
HP:0003468 Abnormal vertebral morphology Frequent (79-30%)
HP:0006101 Finger syndactyly Frequent (79-30%)
HP:0010109 Short hallux Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID