Facial dysmorphism - shawl scrotum - joint laxity

General Information (adopted from Orphanet):

Synonyms, Signs: Seaver-Cassidy syndrome
Number of Symptoms 24
OrphanetNr: 1778
OMIM Id:
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
X-linked dominant inheritance
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000049) Shawl scrotum Very frequent [Orphanet] 31 / 7739
2
(HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
3
(HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
4
(HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
5
(HPO:0000506) Telecanthus Very frequent [Orphanet] 156 / 7739
6
(HPO:0000239) Large fontanelles Frequent [Orphanet] 135 / 7739
7
(HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
8
(HPO:0002162) Low posterior hairline Frequent [Orphanet] 88 / 7739
9
(HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
10
(HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
11
(HPO:0000272) Malar flattening Very frequent [Orphanet] 277 / 7739
12
(HPO:0000303) Mandibular prognathia Frequent [Orphanet] 179 / 7739
13
(HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
14
(HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
15
(HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
16
(HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
17
(HPO:0002857) Genu valgum Very frequent [Orphanet] 144 / 7739
18
(HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
19
(HPO:0002967) Cubitus valgus Frequent [Orphanet] 49 / 7739
20
(HPO:0001537) Umbilical hernia Frequent [Orphanet] 206 / 7739
21
(HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
22
(HPO:0001928) Abnormality of coagulation Frequent [Orphanet] 44 / 7739
23
(HPO:0001608) Abnormality of the voice Frequent [Orphanet] 126 / 7739
24
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: