SCARF syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
SKELETAL ABNORMALITIES, CUTIS LAXA, CRANIOSTENOSIS, AMBIGUOUS GENITALIA, RETARDATION, AND FACIAL ABNORMALITIES |
| Number of Symptoms | 61 |
| OrphanetNr: | 3134 |
| OMIM Id: |
312830
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| ICD-10: |
Q82.8 |
| UMLs: |
C1839321 |
| MeSH: |
C536625 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Cutis laxa
-Rare abdominal surgical disease -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare skin disease -Rare surgical thoracic disease Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit -Rare developmental defect during embryogenesis -Rare genetic disease Syndromic craniosynostosis -Rare bone disease -Rare developmental defect during embryogenesis -Rare genetic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000054) | Micropenis | Very frequent [Orphanet] | 257 / 7739 | |||
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(HPO:0000062) | Ambiguous genitalia | Very frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0000028) | Cryptorchidism | 347 / 7739 | ||||
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(HPO:0000048) | Bifid scrotum | 36 / 7739 | ||||
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(HPO:0000051) | Perineal hypospadias | 6 / 7739 | ||||
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(HPO:0000047) | Hypospadias | Very frequent [Orphanet] | 250 / 7739 | |||
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(HPO:0000431) | Wide nasal bridge | 290 / 7739 | ||||
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(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0004440) | Coronal craniosynostosis | 38 / 7739 | ||||
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(HPO:0006297) | Hypoplasia of dental enamel | 64 / 7739 | ||||
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(HPO:0005989) | Redundant neck skin | Very frequent [Orphanet] | 40 / 7739 | |||
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(HPO:0002002) | Deep philtrum | Frequent [Orphanet] | 42 / 7739 | |||
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(HPO:0011324) | Multiple suture craniosynostosis | 22 / 7739 | ||||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0009553) | Abnormality of the hairline | Frequent [Orphanet] | 30 / 7739 | |||
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(HPO:0000474) | Thickened nuchal skin fold | 10 / 7739 | ||||
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(HPO:0000331) | Short chin | 33 / 7739 | ||||
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(HPO:0004443) | Lambdoidal craniosynostosis | 15 / 7739 | ||||
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(HPO:0000470) | Short neck | Very frequent [Orphanet] | 345 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000682) | Abnormality of dental enamel | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0002162) | Low posterior hairline | 88 / 7739 | ||||
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(HPO:0000294) | Low anterior hairline | 52 / 7739 | ||||
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(HPO:0001363) | Craniosynostosis | Very frequent [Orphanet] | 132 / 7739 | |||
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(HPO:0000426) | Prominent nasal bridge | Very frequent [Orphanet] | 121 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000465) | Webbed neck | 81 / 7739 | ||||
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(HPO:0000286) | Epicanthus | Frequent [Orphanet] | 371 / 7739 | |||
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(HPO:0000486) | Strabismus | 576 / 7739 | ||||
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(HPO:0000508) | Ptosis | Frequent [Orphanet] | 459 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0000358) | Posteriorly rotated ears | 163 / 7739 | ||||
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(HPO:0000369) | Low-set ears | 372 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0006610) | Wide intermamillary distance | 46 / 7739 | ||||
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(HPO:0002557) | Hypoplastic nipples | 33 / 7739 | ||||
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(HPO:0004404) | Abnormality of the nipple | Very frequent [Orphanet] | 54 / 7739 | |||
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(HPO:0006709) | Aplasia/Hypoplasia of the nipples | Very frequent [Orphanet] | 28 / 7739 | |||
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(HPO:0001552) | Barrel-shaped chest | 31 / 7739 | ||||
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(HPO:0000879) | Short sternum | 16 / 7739 | ||||
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(HPO:0003312) | Abnormal form of the vertebral bodies | Frequent [Orphanet] | 172 / 7739 | |||
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(HPO:0000768) | Pectus carinatum | Frequent [Orphanet] | 136 / 7739 | |||
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(HPO:0100625) | Enlarged thorax | Frequent [Orphanet] | 15 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Very frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0010318) | Aplasia/Hypoplasia of the abdominal wall musculature | Very frequent [Orphanet] | 55 / 7739 | |||
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(HPO:0002240) | Hepatomegaly | Frequent [Orphanet] | 467 / 7739 | |||
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(HPO:0000023) | Inguinal hernia | 181 / 7739 | ||||
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(HPO:0001540) | Diastasis recti | 23 / 7739 | ||||
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000973) | Cutis laxa | 43 / 7739 | ||||
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(HPO:0008070) | Sparse hair | 94 / 7739 | ||||
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(HPO:0000974) | Hyperextensible skin | Very frequent [Orphanet] | 59 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Neck webs | 1 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Mental retardation, mild to moderate | 33 / 7739 | ||||
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(OMIM) | Broad, high nasal root | 2 / 7739 | ||||
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(OMIM) | Multiple hair whorls | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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