MCID: CMP088
MIFTS: 17

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 57
Camptodactyly Syndrome, Guadalajara Type 3 59
Camptodactyly Syndrome Guadalajara Type 3 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 short neck 32 HP:0000470
4 muscular hypotonia 32 HP:0001252
5 global developmental delay 32 HP:0001263
6 delayed skeletal maturation 32 HP:0002750
7 intellectual disability, mild 32 HP:0001256
8 retrognathia 32 HP:0000278
9 flat face 32 HP:0012368
10 webbed neck 32 HP:0000465
11 nevus 32 HP:0003764
12 abnormality of the pinna 32 HP:0000377
13 telecanthus 32 HP:0000506
14 spina bifida occulta 32 HP:0003298
15 torticollis 32 HP:0000473
16 micropenis 32 HP:0000054
17 generalized hypotonia 32 HP:0001290
18 camptodactyly 32 HP:0012385
19 small hypothenar eminence 32 HP:0010487
20 small thenar eminence 32 HP:0001245
21 joint contracture of the hand 32 HP:0009473
22 absent phalangeal crease 32 HP:0006109
23 symblepharon 32 HP:0430007

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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