Brachytelephalangy-dysmorphism-Kallmann syndrome

Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.



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

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000219 Thin upper lip vermilion Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000337 Broad forehead Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0001053 Hypopigmented skin patches Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001163 Abnormality of the metacarpal bones Very frequent (99-80%)
HP:0003196 Short nose Very frequent (99-80%)
HP:0005288 Abnormality of the nares Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0010624 Aplastic/hypoplastic toenail Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0000044 Hypogonadotrophic hypogonadism Frequent (79-30%)
HP:0000048 Bifid scrotum Frequent (79-30%)
HP:0000458 Anosmia Frequent (79-30%)
HP:0000664 Synophrys Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002857 Genu valgum Frequent (79-30%)
HP:0008736 Hypoplasia of penis 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