Brachytelephalangy - dysmorphism - Kallmann syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 28 |
| OrphanetNr: | 1295 |
| OMIM Id: |
113480
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Syndrome with brachydactyly -Rare bone disease -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0000044) | Hypogonadotrophic hypogonadism | 56 / 7739 | ||||
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(HPO:0000054) | Micropenis | Frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000048) | Bifid scrotum | Frequent [Orphanet] | 36 / 7739 | |||
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0004408) | Abnormality of the sense of smell | Frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0000337) | Broad forehead | Very frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000506) | Telecanthus | Very frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0000233) | Thin vermilion border | Very frequent [Orphanet] | 124 / 7739 | |||
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(HPO:0000316) | Hypertelorism | Very frequent [Orphanet] | 644 / 7739 | |||
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(HPO:0009933) | Narrow naris | Very frequent [Orphanet] | 16 / 7739 | |||
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(HPO:0000664) | Synophrys | Frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0000219) | Thin upper lip vermilion | 112 / 7739 | ||||
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(HPO:0000272) | Malar flattening | Very frequent [Orphanet] | 277 / 7739 | |||
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(HPO:0000458) | Anosmia | 49 / 7739 | ||||
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(HPO:0000319) | Smooth philtrum | 72 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0002857) | Genu valgum | Frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0004279) | Short palm | Very frequent [Orphanet] | 323 / 7739 | |||
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(HPO:0009882) | Short distal phalanx of finger | Very frequent [Orphanet] | 125 / 7739 | |||
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(HPO:0001163) | Abnormality of the metacarpal bones | Very frequent [Orphanet] | 149 / 7739 | |||
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(HPO:0001800) | Hypoplastic toenails | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0001053) | Hypopigmented skin patches | Very frequent [Orphanet] | 80 / 7739 | |||
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(OMIM) | Square forehead | 4 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Brachytelephalangy | 3 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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