Aase-Smith syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
JOINT CONTRACTURES WITH OTHER ABNORMALITIES Aase-Smith I syndrome Hydrocephalus - cleft palate - joint contractures |
| Number of Symptoms | 32 |
| OrphanetNr: | 916 |
| OMIM Id: |
147800
|
| ICD-10: |
Q87.8 |
| UMLs: |
C0220686 |
| MeSH: |
C535332 |
| MedDRA: |
10063429 |
| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | < 10 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
-Rare genetic disease Genetic syndrome with a Dandy-Walker malformation as major feature -Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis Orofacial clefting syndrome -Rare developmental defect during embryogenesis -Rare genetic disease -Rare maxillo-facial surgical disease -Rare otorhinolaryngologic disease Syndrome with a Dandy-Walker malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
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(HPO:0000174) | Abnormality of the palate | Very frequent [Orphanet] | 298 / 7739 | |||
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(HPO:0001305) | Dandy-Walker malformation | Very frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000194) | Open mouth | 70 / 7739 | ||||
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(HPO:0000508) | Ptosis | 459 / 7739 | ||||
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(HPO:0000486) | Strabismus | Occasional [Orphanet] | 576 / 7739 | |||
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(HPO:0000598) | Abnormality of the ear | Very frequent [Orphanet] | 98 / 7739 | |||
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(HPO:0000377) | Abnormality of the pinna | 111 / 7739 | ||||
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(HPO:0006742) | Congenital neuroblastoma | 1 / 7739 | ||||
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(HPO:0100490) | Camptodactyly of finger | Very frequent [Orphanet] | 212 / 7739 | |||
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(HPO:0001238) | Slender finger | 23 / 7739 | ||||
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(HPO:0002818) | Abnormality of the radius | Frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0010488) | Aplasia/Hypoplasia of the palmar creases | Occasional [Orphanet] | 15 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Very frequent [Orphanet] | 322 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0001385) | Hip dysplasia | Very frequent [Orphanet] | 242 / 7739 | |||
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(HPO:0002650) | Scoliosis | Very frequent [Orphanet] | 705 / 7739 | |||
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(HPO:0001629) | Ventricular septal defect | 316 / 7739 | ||||
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(HPO:0002664) | Neoplasm | Occasional [Orphanet] | 111 / 7739 | |||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 | ||||
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(OMIM) | Congenital severe joint contractures | 1 / 7739 | ||||
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(OMIM) | Inability to make a complete fist | 1 / 7739 | ||||
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(OMIM) | Limitation in ability to open mouth | 1 / 7739 | ||||
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(OMIM) | Hypoplastic dermal ridges | 2 / 7739 | ||||
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(OMIM) | Reduced interphalangeal creases | 1 / 7739 | ||||
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(OMIM) | Single sternal ossification center | 1 / 7739 | ||||
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(HPO:0001334) | Communicating hydrocephalus | 32 / 7739 | ||||
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(OMIM) | Multiple ventricular septal defects | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Thin fingers with absent knuckles | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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