Distal limb deficiencies-micrognathia syndrome

The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.



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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:0000308 Microretrognathia Very frequent (99-80%)
HP:0000327 Hypoplasia of the maxilla Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0002916 Abnormality of chromosome segregation Very frequent (99-80%)
HP:0003028 Abnormality of the ankles Very frequent (99-80%)
HP:0012165 Oligodactyly Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000083 Renal insufficiency Frequent (79-30%)
HP:0000089 Renal hypoplasia Frequent (79-30%)
HP:0000093 Proteinuria Frequent (79-30%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000218 High palate Frequent (79-30%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0002342 Intellectual disability, moderate Frequent (79-30%)
HP:0003019 Abnormality of the wrist Frequent (79-30%)
HP:0006501 Aplasia/Hypoplasia of the radius Frequent (79-30%)
HP:0009601 Aplasia/Hypoplasia of the thumb Frequent (79-30%)
HP:0000171 Microglossia Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000426 Prominent nasal bridge Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000691 Microdontia Occasional (29-5%)
HP:0001839 Split foot Occasional (29-5%)
HP:0002997 Abnormality of the ulna Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0008368 Tarsal synostosis 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