Sakati-Nyhan syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SAKATI-NYHAN SYNDROME ACPS III Sakati-Nyhan-Tisdale syndrome Acrocephalopolysyndactyly type 3 acps with leg hypoplasia Sakati syndrome |
| Number of Symptoms | 34 |
| OrphanetNr: | 3128 |
| OMIM Id: |
101120
|
| ICD-10: |
Q87.0 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | < 5 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit -Rare developmental defect during embryogenesis Syndromic craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000327) | Hypoplasia of the maxilla | 129 / 7739 | ||||
|
|
(HPO:0001363) | Craniosynostosis | 132 / 7739 | ||||
|
|
(HPO:0000316) | Hypertelorism | 644 / 7739 | ||||
|
|
(HPO:0000263) | Oxycephaly | 10 / 7739 | ||||
|
|
(HPO:0000494) | Downslanted palpebral fissures | Very frequent [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0000303) | Mandibular prognathia | 179 / 7739 | ||||
|
|
(HPO:0000664) | Synophrys | Very frequent [Orphanet] | 112 / 7739 | |||
|
|
(HPO:0000586) | Shallow orbits | 23 / 7739 | ||||
|
|
(HPO:0000470) | Short neck | 345 / 7739 | ||||
|
|
(HPO:0000678) | Dental crowding | 65 / 7739 | ||||
|
|
(HPO:0000272) | Malar flattening | 277 / 7739 | ||||
|
|
(HPO:0000274) | Small face | 18 / 7739 | ||||
|
|
(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
|
|
(HPO:0000377) | Abnormality of the pinna | 111 / 7739 | ||||
|
|
(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
|
|
(HPO:0011304) | Broad thumb | 39 / 7739 | ||||
|
|
(HPO:0004349) | Reduced bone mineral density | Very frequent [Orphanet] | 165 / 7739 | |||
|
|
(HPO:0100258) | Preaxial polydactyly | 39 / 7739 | ||||
|
|
(HPO:0003103) | Abnormal cortical bone morphology | Very frequent [Orphanet] | 38 / 7739 | |||
|
|
(HPO:0001159) | Syndactyly | 140 / 7739 | ||||
|
|
(HPO:0010055) | Broad hallux | 56 / 7739 | ||||
|
|
(HPO:0001177) | Preaxial hand polydactyly | 59 / 7739 | ||||
|
|
(HPO:0000944) | Abnormality of the metaphyses | Very frequent [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0009816) | Lower limb undergrowth | 6 / 7739 | ||||
|
|
(HPO:0002659) | Increased susceptibility to fractures | Very frequent [Orphanet] | 110 / 7739 | |||
|
|
(HPO:0004299) | Hernia of the abdominal wall | Very frequent [Orphanet] | 176 / 7739 | |||
|
|
(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
|
|
(HPO:0000974) | Hyperextensible skin | Very frequent [Orphanet] | 59 / 7739 | |||
|
|
(OMIM) | Flat facies | 5 / 7739 | ||||
|
|
(OMIM) | Short neck with low hairline | 1 / 7739 | ||||
|
|
(HPO:0400004) | Long ear | Very frequent [Orphanet] | 94 / 7739 | |||
|
|
(OMIM) | Broad thumbs and broad great toes | 1 / 7739 | ||||
|
|
(OMIM) | Hypoplastic legs | 1 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|