MCID: CMP088
MIFTS: 16

Camptodactyly Syndrome, Guadalajara, Type Iii

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

Aliases & Classifications for Camptodactyly Syndrome, Guadalajara, Type Iii

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

Name: Camptodactyly Syndrome, Guadalajara, Type Iii 58
Camptodactyly Syndrome, Guadalajara Type 3 60
Camptodactyly Syndrome Guadalajara Type 3 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
camptodactyly syndrome, guadalajara, type iii:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Camptodactyly Syndrome, Guadalajara, Type Iii

MalaCards based summary : Camptodactyly Syndrome, Guadalajara, Type Iii, is also known as camptodactyly syndrome, guadalajara type 3. Affiliated tissues include bone, and related phenotypes are malar flattening and hypertelorism

Description from OMIM: 611929

Related Diseases for Camptodactyly Syndrome, Guadalajara, Type Iii

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 Iii

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

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 hypertelorism 33 HP:0000316
3 short neck 33 HP:0000470
4 muscular hypotonia 33 HP:0001252
5 global developmental delay 33 HP:0001263
6 delayed skeletal maturation 33 HP:0002750
7 intellectual disability, mild 33 HP:0001256
8 retrognathia 33 HP:0000278
9 flat face 33 HP:0012368
10 webbed neck 33 HP:0000465
11 nevus 33 HP:0003764
12 abnormality of the pinna 33 HP:0000377
13 telecanthus 33 HP:0000506
14 spina bifida occulta 33 HP:0003298
15 torticollis 33 HP:0000473
16 micropenis 33 HP:0000054
17 generalized hypotonia 33 HP:0001290
18 camptodactyly 33 HP:0012385
19 small hypothenar eminence 33 HP:0010487
20 small thenar eminence 33 HP:0001245
21 joint contracture of the hand 33 HP:0009473
22 absent phalangeal crease 33 HP:0006109
23 symblepharon 33 HP:0430007

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
telecanthus
symblepharon (adhesion of the eyelid to the eyeball)

Head And Neck Face:
retrognathia
flat face
widened columella

Skeletal Hands:
camptodactyly
thenar hypoplasia
hypothenar hypoplasia
thin hands
poorly defined palmar creases
more
Skeletal:
delayed bone age

Genitourinary External Genitalia Male:
small penis

Skeletal Pelvis:
widened femoral neck

Skin Nails Hair Skin:
poorly defined palmar creases
absent interphalangeal creases
multiple nevi (face and torso)

Head And Neck Neck:
short neck
torticollis
pterygium colli
short sternocleidomastoid

Skeletal Spine:
spina bifida occulta

Neurologic Central Nervous System:
developmental delay
hypotonia
mental retardation, mild

Head And Neck Ears:
simple ears

Head And Neck Nose:
widened nasal tip

Skeletal Limbs:
cortical thickening

Skeletal Feet:
thin feet
external rotation 4th and 5th toes

Clinical features from OMIM:

611929

Drugs & Therapeutics for Camptodactyly Syndrome, Guadalajara, Type Iii

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

Genetic Tests for Camptodactyly Syndrome, Guadalajara, Type Iii

Anatomical Context for Camptodactyly Syndrome, Guadalajara, Type Iii

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

42
Bone

Publications for Camptodactyly Syndrome, Guadalajara, Type Iii

Variations for Camptodactyly Syndrome, Guadalajara, Type Iii

Expression for Camptodactyly Syndrome, Guadalajara, Type Iii

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

Pathways for Camptodactyly Syndrome, Guadalajara, Type Iii

GO Terms for Camptodactyly Syndrome, Guadalajara, Type Iii

Sources for Camptodactyly Syndrome, Guadalajara, Type Iii

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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