Juberg-Hayward syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: JUBERG-HAYWARD SYNDROME
JHS
Cleft lip/palate - abnormal thumbs - microcephaly
orocraniodigital syndrome
Number of Symptoms 40
OrphanetNr: 2319
OMIM Id: 216100
ICD-10: Q87.0
UMLs:
MeSH: C537690
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -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

Symptom Information: Sort by abundance 

1
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
2
 (HPO:0000085) Horseshoe kidney 39 / 7739
3
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
4
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
5
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
6
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
7
 (HPO:0001305) Dandy-Walker malformation Occasional [Orphanet] 79 / 7739
8
 (HPO:0000204) Cleft upper lip Frequent [Orphanet] 193 / 7739
9
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
10
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
11
 (HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
12
 (HPO:0002553) Highly arched eyebrow Frequent [Orphanet] 92 / 7739
13
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0000824) Growth hormone deficiency 56 / 7739
16
 (HPO:0003422) Vertebral segmentation defect Frequent [Orphanet] 95 / 7739
17
 (HPO:0003995) Abnormality of the radial head 1 / 7739
18
 (HPO:0000921) Missing ribs Frequent [Orphanet] 62 / 7739
19
 (HPO:0001377) Limited elbow extension 38 / 7739
20
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
21
 (HPO:0002818) Abnormality of the radius Frequent [Orphanet] 96 / 7739
22
 (HPO:0009658) Aplasia/Hypoplasia of the phalanges of the thumb 4 / 7739
23
 (HPO:0009811) Abnormality of the elbow Frequent [Orphanet] 30 / 7739
24
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
25
 (HPO:0001191) Abnormality of the carpal bones 6 / 7739
26
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
27
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Frequent [Orphanet] 80 / 7739
28
 (HPO:0002974) Radioulnar synostosis Frequent [Orphanet] 52 / 7739
29
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
30
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
31
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
32
 (HPO:0001438) Abnormality of the abdomen 28 / 7739
33
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
35
 (OMIM) Stiff thumbs 3 / 7739
36
 (OMIM) Minor vertebral and rib anomalies 1 / 7739
37
 (OMIM) Toe anomalies 1 / 7739
38
 (OMIM) Anterior anal displacement 1 / 7739
39
 (OMIM) Thumbs proximal/distally placed 1 / 7739
40
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: