JHS
MCID: CLF046
MIFTS: 27

Cleft Lip/palate with Abnormal Thumbs and Microcephaly (JHS)

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

MalaCards integrated aliases for Cleft Lip/palate with Abnormal Thumbs and Microcephaly:

Name: Cleft Lip/palate with Abnormal Thumbs and Microcephaly 56 52 71
Orocraniodigital Syndrome 56 52 58
Juberg-Hayward Syndrome 56 52 58
Jhs 56 52
Cleft Lip/palate-Abnormal Thumbs-Microcephaly Syndrome 58
Juberg-Hayward Syndrome; Jhs 56

Characteristics:

Orphanet epidemiological data:

58
juberg-hayward syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive, dominance not excluded


HPO:

31
cleft lip/palate with abnormal thumbs and microcephaly:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2319 Definition Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly , facial dysmorphism, urogenital anomalies and intellectual deficit. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cleft Lip/palate with Abnormal Thumbs and Microcephaly, also known as orocraniodigital syndrome, is related to orofaciodigital syndrome viii and hemochromatosis, type 2a. Affiliated tissues include bone and kidney, and related phenotypes are microcephaly and intrauterine growth retardation

More information from OMIM: 216100

Related Diseases for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Diseases related to Cleft Lip/palate with Abnormal Thumbs and Microcephaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 orofaciodigital syndrome viii 11.8
2 hemochromatosis, type 2a 11.6
3 microcephaly 10.7
4 synostosis 10.6
5 humeroradial synostosis 10.6
6 cleft palate, isolated 10.4
7 dandy-walker syndrome 10.4
8 3mc syndrome 3 10.4
9 roberts syndrome 10.4
10 sc phocomelia syndrome 10.4
11 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.4
12 joint laxity, short stature, and myopia 10.4
13 brachydactyly 10.4
14 cerebellar hypoplasia 10.4
15 hydrocephalus 10.4
16 myopia 10.4
17 radioulnar synostosis 10.4
18 growth hormone deficiency 10.4
19 phocomelia 10.4
20 lymphoma 10.3
21 scoliosis 10.2
22 leukemia 10.2
23 severe combined immunodeficiency 10.2
24 b-cell lymphoma 10.2
25 hypertelorism 10.1
26 ptosis 10.1
27 cleft lip 10.1
28 cleft lip/palate 10.1
29 renal cell carcinoma, nonpapillary 10.1
30 leukemia, acute lymphoblastic 10.1
31 follicular lymphoma 10.1
32 plasmacytoma 10.1
33 renal cell carcinoma, papillary, 1 10.0
34 hemosiderosis 10.0
35 hypermobility syndrome 10.0
36 hypothyroidism 10.0
37 pneumothorax 10.0
38 clear cell renal cell carcinoma 10.0
39 hypermobile ehlers-danlos syndrome 10.0
40 chromophil renal cell carcinoma 10.0
41 rare hereditary hemochromatosis 10.0
42 autoimmune disease 9.9
43 bladder cancer 9.9
44 ehlers-danlos syndrome, hypermobility type 9.9
45 leukemia, chronic lymphocytic 9.9
46 osteoporosis 9.9
47 pneumothorax, primary spontaneous 9.9
48 polykaryocytosis inducer 9.9
49 scoliosis, isolated 1 9.9
50 tetralogy of fallot 9.9

Graphical network of the top 20 diseases related to Cleft Lip/palate with Abnormal Thumbs and Microcephaly:



Diseases related to Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Symptoms & Phenotypes for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Human phenotypes related to Cleft Lip/palate with Abnormal Thumbs and Microcephaly:

58 31 (show all 35)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 wide nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000445
4 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
5 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
6 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
7 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
8 abnormal vertebral morphology 58 31 frequent (33%) Frequent (79-30%) HP:0003468
9 horseshoe kidney 58 31 frequent (33%) Frequent (79-30%) HP:0000085
10 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
11 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
12 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
13 radioulnar synostosis 58 31 frequent (33%) Frequent (79-30%) HP:0002974
14 short thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009778
15 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
16 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
17 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
18 oral cleft 58 31 frequent (33%) Frequent (79-30%) HP:0000202
19 hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0002984
20 hammertoe 58 31 frequent (33%) Frequent (79-30%) HP:0001765
21 abnormality of the wrist 58 31 frequent (33%) Frequent (79-30%) HP:0003019
22 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
23 dandy-walker malformation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001305
24 anteriorly placed anus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001545
25 short stature 31 HP:0004322
26 cleft upper lip 31 HP:0000204
27 abnormality of the eyebrow 58 Frequent (79-30%)
28 abnormality of finger 58 Frequent (79-30%)
29 aplasia/hypoplasia of the thumb 31 HP:0009601
30 abnormality of the carpal bones 31 HP:0001191
31 growth hormone deficiency 31 HP:0000824
32 limited elbow extension 31 HP:0001377
33 abnormality of toe 31 HP:0001780
34 abnormality of abdomen morphology 31 HP:0001438
35 abnormality of the radial head 31 HP:0003995

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
hypertelorism
microcephaly
ptosis
cleft lip/palate
bowed and upward slanting eyebrows

Endocrine:
growth hormone deficiency

Skel:
stiff thumbs
thumbs hypo/aplastic
thumbs proximal/distally placed
elbow limited extension
toe anomalies
more
G I:
anterior anal displacement

Growth:
short stature

Neuro:
mental retardation

G U:
horseshoe kidneys

Clinical features from OMIM:

216100

Drugs & Therapeutics for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Search Clinical Trials , NIH Clinical Center for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Genetic Tests for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Anatomical Context for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

MalaCards organs/tissues related to Cleft Lip/palate with Abnormal Thumbs and Microcephaly:

40
Bone, Kidney

Publications for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Articles related to Cleft Lip/palate with Abnormal Thumbs and Microcephaly:

# Title Authors PMID Year
1
Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. 61 56
12966528 2003
2
The orocraniodigital syndrome of Juberg and Hayward. 56 61
1583649 1992
3
An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. 56
11310992 2001
4
Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. 56
10826626 2000
5
Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency. 56
7138070 1982
6
A case of the orocraniodigital (Juberg-Hayward) syndrome. 56
6278147 1981
7
A new familial syndrome of oral, cranial, and digital anomalies. 56
5778829 1969
8
Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome. 61
10319201 1999

Variations for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Expression for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Search GEO for disease gene expression data for Cleft Lip/palate with Abnormal Thumbs and Microcephaly.

Pathways for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

GO Terms for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

Sources for Cleft Lip/palate with Abnormal Thumbs and Microcephaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....