Dysmorphism-short stature-deafness-disorder of sex development syndrome

Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.



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

Phenotype(s) retrieved from Orphanet

    Total: 30

HPO ID Term Frequency
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000316 Hypertelorism Frequent (79-30%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0001290 Generalized hypotonia Frequent (79-30%)
HP:0001511 Intrauterine growth retardation Frequent (79-30%)
HP:0001643 Patent ductus arteriosus Frequent (79-30%)
HP:0002092 Pulmonary arterial hypertension Frequent (79-30%)
HP:0002205 Recurrent respiratory infections Frequent (79-30%)
HP:0002553 Highly arched eyebrow Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0006801 Hyperactive deep tendon reflexes Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0010864 Intellectual disability, severe Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0012418 Hypoxemia Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000037 Male pseudohermaphroditism Occasional (29-5%)
HP:0000047 Hypospadias Occasional (29-5%)
HP:0000049 Shawl scrotum Occasional (29-5%)
HP:0000054 Micropenis Occasional (29-5%)
HP:0000185 Cleft soft palate Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000924 Abnormality of the skeletal system Occasional (29-5%)
HP:0011819 Submucous cleft soft palate Occasional (29-5%)


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