MCID: CMP071
MIFTS: 19

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 58
Camptodactyly Syndrome Guadalajara Type 2 54 74
Guadalajara Camptodactyly Syndrome Type Ii 54
Camptodactyly Syndrome, Guadalajara Type 2 60

Characteristics:

Orphanet epidemiological data:

60
camptodactyly syndrome, guadalajara type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
camptodactyly syndrome, guadalajara, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 211920
MESH via Orphanet 46 C537971
ICD10 via Orphanet 35 Q87.1
UMLS via Orphanet 75 C2673861 C2931680
Orphanet 60 ORPHA1326
MedGen 43 C2673861
UMLS 74 C2931680

Summaries for Camptodactyly Syndrome, Guadalajara, Type Ii

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1326Disease definitionCamptodactyly 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, is also known as camptodactyly syndrome guadalajara type 2. Affiliated tissues include bone, and related phenotypes are pectus excavatum and microcephaly

Description 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

Symptoms & Phenotypes for Camptodactyly Syndrome, Guadalajara, Type Ii

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

60 33 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pectus excavatum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000767
2 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
5 talipes equinovarus 60 33 hallmark (90%) Very frequent (99-80%) HP:0001762
6 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
7 cuboid-shaped vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0004634
8 camptodactyly of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0100490
9 labial hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000066
10 short 2nd toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0001885
11 patellar hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003065
12 short 3rd toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0005643
13 short 5th toe 60 33 hallmark (90%) Very frequent (99-80%) HP:0011917
14 low-set ears 33 HP:0000369
15 short neck 33 HP:0000470
16 osteopenia 33 HP:0000938
17 macrotia 33 HP:0000400
18 long philtrum 33 HP:0000343
19 micrognathia 33 HP:0000347
20 wide intermamillary distance 33 HP:0006610
21 brachydactyly 33 HP:0001156
22 abnormality of the neck 33 HP:0000464
23 hallux valgus 33 HP:0001822
24 hypotelorism 33 HP:0000601
25 single transverse palmar crease 33 HP:0000954
26 slender long bone 33 HP:0003100
27 short middle phalanx of finger 33 HP:0005819
28 short 4th toe 33 HP:0008093

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
large ears

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Head And Neck Head:
microcephaly

Head And Neck Face:
long philtrum
micrognathia

Head And Neck Eyes:
hypotelorism

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

Growth Height:
short stature

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

Genitourinary External Genitalia Female:
labial hypoplasia

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:

42
Bone

Publications for Camptodactyly Syndrome, Guadalajara, Type Ii

Articles related to Camptodactyly Syndrome, Guadalajara, Type Ii:

# Title Authors Year
1
Guadalajara camptodactyly syndrome type II. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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