MCID: CLF047
MIFTS: 18

Cleft-Limb-Heart Malformation Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cleft-Limb-Heart Malformation Syndrome

MalaCards integrated aliases for Cleft-Limb-Heart Malformation Syndrome:

Name: Cleft-Limb-Heart Malformation Syndrome 56
Clh Syndrome 56 52
Cleft Lip-Limb and Heart Malformations Syndrome 58
Cleft Limb Heart Malformation Syndrome 52
Verloove Vanhorick Brubakk Syndrome 52
Verloove Vanhorick-Brubakk Syndrome 58
Verloove-Vanhorick Brubakk Syndrome 71

Characteristics:

OMIM:

56
Inheritance:
? autosomal recessive


HPO:

31
cleft-limb-heart malformation syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 215850
MESH via Orphanet 44 C536541
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1859082
Orphanet 58 ORPHA3429
MedGen 41 C1859082
UMLS 71 C1859082

Summaries for Cleft-Limb-Heart Malformation Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3429 Definition Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia , small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981. Visit the Orphanet disease page for more resources.

MalaCards based summary : Cleft-Limb-Heart Malformation Syndrome, is also known as clh syndrome. Affiliated tissues include heart, lung and bone, and related phenotypes are low-set ears and microtia

More information from OMIM: 215850

Related Diseases for Cleft-Limb-Heart Malformation Syndrome

Symptoms & Phenotypes for Cleft-Limb-Heart Malformation Syndrome

Human phenotypes related to Cleft-Limb-Heart Malformation Syndrome:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
3 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
6 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
7 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
8 abnormality of femur morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002823
9 abnormality of the metacarpal bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0001163
10 abnormality of pelvic girdle bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002644
11 aplasia/hypoplasia of the lungs 58 31 hallmark (90%) Very frequent (99-80%) HP:0006703
12 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
13 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
14 abnormality of the parathyroid gland 58 31 hallmark (90%) Very frequent (99-80%) HP:0000828
15 limb undergrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009826
16 abnormality of cardiovascular system morphology 31 hallmark (90%) HP:0030680
17 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
18 abnormal localization of kidney 58 31 frequent (33%) Frequent (79-30%) HP:0100542
19 malformation of the heart and great vessels 58 Very frequent (99-80%)
20 truncus arteriosus 31 HP:0001660
21 syndactyly 31 HP:0001159
22 growth abnormality 31 HP:0001507

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
truncus arteriosus

H E E N T:
cheilognatopalatoschizis
ear dysplasia

Misc:
maternal prediabetes

Growth:
lethal in newborn

Skel:
oligopolysyndactyly, all limbs

Clinical features from OMIM:

215850

Drugs & Therapeutics for Cleft-Limb-Heart Malformation Syndrome

Search Clinical Trials , NIH Clinical Center for Cleft-Limb-Heart Malformation Syndrome

Genetic Tests for Cleft-Limb-Heart Malformation Syndrome

Anatomical Context for Cleft-Limb-Heart Malformation Syndrome

MalaCards organs/tissues related to Cleft-Limb-Heart Malformation Syndrome:

40
Heart, Lung, Bone, Kidney

Publications for Cleft-Limb-Heart Malformation Syndrome

Articles related to Cleft-Limb-Heart Malformation Syndrome:

# Title Authors PMID Year
1
Extensive congenital malformations in two siblings. Maternal pre-diabetes or a new syndrome? 56
7324930 1981

Variations for Cleft-Limb-Heart Malformation Syndrome

Expression for Cleft-Limb-Heart Malformation Syndrome

Search GEO for disease gene expression data for Cleft-Limb-Heart Malformation Syndrome.

Pathways for Cleft-Limb-Heart Malformation Syndrome

GO Terms for Cleft-Limb-Heart Malformation Syndrome

Sources for Cleft-Limb-Heart Malformation Syndrome

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
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