MCID: CMP071
MIFTS: 20

Camptodactyly Syndrome, Guadalajara, Type Ii

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Camptodactyly Syndrome, Guadalajara, Type Ii

MalaCards integrated aliases for Camptodactyly Syndrome, Guadalajara, Type Ii:

Name: Camptodactyly Syndrome, Guadalajara, Type Ii 56
Camptodactyly Syndrome Guadalajara Type 2 52 71
Guadalajara Camptodactyly Syndrome Type Ii 52
Camptodactyly Syndrome, Guadalajara Type 2 58

Characteristics:

Orphanet epidemiological data:

58
camptodactyly syndrome, guadalajara type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
camptodactyly syndrome, guadalajara, type ii:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 211920
MESH via Orphanet 44 C537971
ICD10 via Orphanet 33 Q87.1
UMLS via Orphanet 72 C2673861 C2931680
Orphanet 58 ORPHA1326
MedGen 41 C2673861
UMLS 71 C2931680

Summaries for Camptodactyly Syndrome, Guadalajara, Type Ii

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1326 Definition Camptodactyly syndrome , Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly , low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Visit the Orphanet disease page for more resources.

MalaCards based summary : Camptodactyly Syndrome, Guadalajara, Type Ii, also known as camptodactyly syndrome guadalajara type 2, is related to pectus excavatum and clubfoot. Affiliated tissues include bone, and related phenotypes are pectus excavatum and short stature

More information from OMIM: 211920

Related Diseases for Camptodactyly Syndrome, Guadalajara, Type Ii

Diseases in the Camptodactyly Syndrome, Guadalajara, Type I family:

Camptodactyly Syndrome, Guadalajara, Type Ii Camptodactyly Syndrome, Guadalajara, Type Iii

Diseases related to Camptodactyly Syndrome, Guadalajara, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pectus excavatum 10.2
2 clubfoot 10.2
3 microcephaly 10.2
4 malformation syndrome with short stature 10.2

Symptoms & Phenotypes for Camptodactyly Syndrome, Guadalajara, Type Ii

Human phenotypes related to Camptodactyly Syndrome, Guadalajara, Type Ii:

58 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000767
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
4 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
5 talipes equinovarus 58 31 hallmark (90%) Very frequent (99-80%) HP:0001762
6 hip dislocation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002827
7 labial hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000066
8 cuboid-shaped vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004634
9 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
10 short 2nd toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001885
11 patellar hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003065
12 short 3rd toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0005643
13 short 5th toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0011917
14 low-set ears 31 HP:0000369
15 short neck 31 HP:0000470
16 osteopenia 31 HP:0000938
17 macrotia 31 HP:0000400
18 brachydactyly 31 HP:0001156
19 micrognathia 31 HP:0000347
20 hallux valgus 31 HP:0001822
21 long philtrum 31 HP:0000343
22 wide intermamillary distance 31 HP:0006610
23 slender long bone 31 HP:0003100
24 abnormality of the neck 31 HP:0000464
25 hypotelorism 31 HP:0000601
26 single transverse palmar crease 31 HP:0000954
27 short middle phalanx of finger 31 HP:0005819
28 short 4th toe 31 HP:0008093

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
large ears

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Growth Height:
short stature

Skeletal Feet:
hallux valgus
talipes equinovarus
brachydactyly, toes 2,4, and 5

Genitourinary External Genitalia Female:
labial hypoplasia

Skeletal Limbs:
patellar hypoplasia
slender long bones

Growth Other:
intrauterine retardation

Skeletal Pelvis:
pelvis hypoplasia

Muscle Soft Tissue:
gluteal hypoplasia

Head And Neck Neck:
short neck

Skeletal:
osteopenia

Head And Neck Face:
micrognathia
long philtrum

Head And Neck Head:
microcephaly

Head And Neck Eyes:
hypotelorism

Chest Breasts:
widely spaced nipples

Skeletal Spine:
cuboid vertebral bodies

Skeletal Hands:
simian creases
camptodactyly, all fingers
second phalanx hypoplasia

Clinical features from OMIM:

211920

Drugs & Therapeutics for Camptodactyly Syndrome, Guadalajara, Type Ii

Search Clinical Trials , NIH Clinical Center for Camptodactyly Syndrome, Guadalajara, Type Ii

Genetic Tests for Camptodactyly Syndrome, Guadalajara, Type Ii

Anatomical Context for Camptodactyly Syndrome, Guadalajara, Type Ii

MalaCards organs/tissues related to Camptodactyly Syndrome, Guadalajara, Type Ii:

40
Bone

Publications for Camptodactyly Syndrome, Guadalajara, Type Ii

Articles related to Camptodactyly Syndrome, Guadalajara, Type Ii:

# Title Authors PMID Year
1
Guadalajara camptodactyly syndrome type II. 56 61
4040823 1985

Variations for Camptodactyly Syndrome, Guadalajara, Type Ii

Expression for Camptodactyly Syndrome, Guadalajara, Type Ii

Search GEO for disease gene expression data for Camptodactyly Syndrome, Guadalajara, Type Ii.

Pathways for Camptodactyly Syndrome, Guadalajara, Type Ii

GO Terms for Camptodactyly Syndrome, Guadalajara, Type Ii

Sources for Camptodactyly Syndrome, Guadalajara, Type Ii

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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