JHS
MCID: JBR008
MIFTS: 29

Juberg-Hayward Syndrome (JHS)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Juberg-Hayward Syndrome

MalaCards integrated aliases for Juberg-Hayward Syndrome:

Name: Juberg-Hayward Syndrome 57 20 58 6
Cleft Lip/palate with Abnormal Thumbs and Microcephaly 57 20 70
Orocraniodigital Syndrome 57 20 58
Jhs 57 20
Cleft Lip/palate with Radial Head and Digital Anomalies 57
Cleft Lip/palate-Abnormal Thumbs-Microcephaly Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 2 brothers and an unrelated girl (last curated march 2021)


HPO:

31
juberg-hayward syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Juberg-Hayward Syndrome

OMIM® : 57 Juberg-Hayward syndrome (JHS) is characterized by cleft lip and palate, rhizomelia of the upper limbs with limited elbow extension due to humeroradial synostosis or dislocation of the radial head, and digital anomalies, including shortened thumbs and index and fifth fingers. Microcephaly has been observed in some patients (Kantaputra et al., 2020). (216100) (Updated 05-Apr-2021)

MalaCards based summary : Juberg-Hayward Syndrome, also known as cleft lip/palate with abnormal thumbs and microcephaly, is related to orofaciodigital syndrome viii and microcephaly. An important gene associated with Juberg-Hayward Syndrome is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2). Affiliated tissues include kidney and bone, and related phenotypes are microcephaly and intrauterine growth retardation

GARD : 20 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.

Wikipedia : 73 Juberg-Hayward syndrome is a rare genetic syndrome characterised by cleft lip and cleft palate,... more...

Related Diseases for Juberg-Hayward Syndrome

Graphical network of the top 20 diseases related to Juberg-Hayward Syndrome:



Diseases related to Juberg-Hayward Syndrome

Symptoms & Phenotypes for Juberg-Hayward Syndrome

Human phenotypes related to Juberg-Hayward Syndrome:

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 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
7 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
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 limited elbow extension 31 HP:0001377
32 abnormality of toe 31 HP:0001780
33 abnormality of the radial head 31 HP:0003995
34 abnormal abdomen morphology 31 HP:0001438
35 decreased response to growth hormone stimuation test 31 HP:0000824

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
depressed nasal bridge
hanging columella

Growth Height:
short stature

Skeletal Limbs:
humeroradial synostosis
hypoplastic ulnae
rhizomelic shortening of arms
limited extension of forearms
limited supination/pronation of forearms
more
Skeletal Hands:
hypoplastic thumbs
proximally placed thumbs
fifth-finger clinodactyly
immobile thumbs
hypocalcified thumbs
more
Skeletal Feet:
short toes
cutaneous syndactyly, 2-3
fusion of middle and distal phalanges, 3rd toe

Skeletal Skull:
microcephaly (may resolve by adulthood)

Skeletal Spine:
platyspondyly of cervical spine

Head And Neck Eyes:
hypertelorism
arched eyebrows
ptosis, bilateral asymmetric

Head And Neck Mouth:
cleft palate
cleft lip
alveolar cleft
protruding premaxilla

Skeletal:
delayed bone age

Growth Weight:
low weight

Head And Neck Head:
microcephaly (may resolve by adulthood)

Head And Neck Teeth:
absent maxillary lateral incisors
fluorosis of maxillary central incisors

Clinical features from OMIM®:

216100 (Updated 05-Apr-2021)

Drugs & Therapeutics for Juberg-Hayward Syndrome

Search Clinical Trials , NIH Clinical Center for Juberg-Hayward Syndrome

Genetic Tests for Juberg-Hayward Syndrome

Anatomical Context for Juberg-Hayward Syndrome

MalaCards organs/tissues related to Juberg-Hayward Syndrome:

40
Kidney, Bone

Publications for Juberg-Hayward Syndrome

Articles related to Juberg-Hayward Syndrome:

(show all 14)
# Title Authors PMID Year
1
Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2. 61 6 57
32977150 2020
2
Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2. 57 6 61
32255174 2020
3
Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. 57 61
12966528 2003
4
An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. 61 57
11310992 2001
5
Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. 61 57
10826626 2000
6
Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome. 61 57
10319201 1999
7
The orocraniodigital syndrome of Juberg and Hayward. 61 57
1583649 1992
8
Orocraniodigital (Juberg-Hayward) syndrome with growth hormone deficiency. 61 57
7138070 1982
9
A case of the orocraniodigital (Juberg-Hayward) syndrome. 61 57
6278147 1981
10
A new familial syndrome of oral, cranial, and digital anomalies. 57
5778829 1969
11
A novel chromosomal aberration in a child with suspected Juberg-Hayward syndrome. 61
21326092 2011
12
Prenatal diagnosis of Juberg-Hayward syndrome. 61
15712337 2005
13
Further case of aminopterin syndrome sine aminopterin in a Spanish child. 61
11186884 2000
14
Pseudoaminopterin syndrome. 61
8357010 1993

Variations for Juberg-Hayward Syndrome

ClinVar genetic disease variations for Juberg-Hayward Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ESCO2 NM_001017420.3(ESCO2):c.1654C>T (p.Arg552Ter) SNV Pathogenic 1027671 GRCh37: 8:27657214-27657214
GRCh38: 8:27799697-27799697

Expression for Juberg-Hayward Syndrome

Search GEO for disease gene expression data for Juberg-Hayward Syndrome.

Pathways for Juberg-Hayward Syndrome

GO Terms for Juberg-Hayward Syndrome

Sources for Juberg-Hayward Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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