Microcephaly - intellectual deficit - phalangeal and neurological anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Woods-Crouchman-Huson syndrome
Number of Symptoms 26
OrphanetNr: 137658
OMIM Id: 615236
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with microcephaly as major feature
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000158) Macroglossia Very frequent [Orphanet] 119 / 7739
3
 (HPO:0000337) Broad forehead Very frequent [Orphanet] 116 / 7739
4
 (HPO:0010761) Broad columella Very frequent [Orphanet] 10 / 7739
5
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
6
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
7
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
8
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
9
 (HPO:0000430) Underdeveloped nasal alae Very frequent [Orphanet] 90 / 7739
10
 (HPO:0001332) Dystonia Very frequent [Orphanet] 197 / 7739
11
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
12
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
15
 (HPO:0001863) Toe clinodactyly Very frequent [Orphanet] 12 / 7739
16
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
17
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
18
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
19
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
20
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
23
 (HPO:0001629) Ventricular septal defect Frequent [Orphanet] 316 / 7739
24
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
25
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Among the children of a Pakistani couple related as first cousins, Woods et al. (1992) observed a distinctive nonprogressive disorder characterized by variable phalangeal anomalies, microcephaly, pre- and postnatal growth retardation, poor vision, dystonic movements, characteristic face, and ...