ARTHROGRYPOSIS, DISTAL, TYPE 2A

General Information (adopted from Orphanet):

Synonyms, Signs: WHISTLING FACE-WINDMILL VANE HAND SYNDROME
CRANIOCARPOTARSAL DYSPLASIA
FREEMAN-SHELDON SYNDROME
CRANIOCARPOTARSAL DYSTROPHY
DA2A
FSS
Number of Symptoms 48
OrphanetNr:
OMIM Id: 193700
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000343) Long philtrum 262 / 7739
2
 (HPO:0000431) Wide nasal bridge 290 / 7739
3
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
4
 (HPO:0000252) Microcephaly 832 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0000160) Narrow mouth 188 / 7739
9
 (HPO:0012368) Flat face 106 / 7739
10
 (HPO:0000581) Blepharophimosis 197 / 7739
11
 (HPO:0000490) Deeply set eye 131 / 7739
12
 (HPO:0000298) Mask-like facies 44 / 7739
13
 (HPO:0000506) Telecanthus 156 / 7739
14
 (HPO:0000205) Pursed lips 6 / 7739
15
 (HPO:0000346) Whistling appearance 4 / 7739
16
 (HPO:0000486) Strabismus 576 / 7739
17
 (HPO:0000508) Ptosis 459 / 7739
18
 (HPO:0001257) Spasticity 251 / 7739
19
 (HPO:0001249) Intellectual disability 1089 / 7739
20
 (HPO:0001250) Seizures 1245 / 7739
21
 (HPO:0001762) Talipes equinovarus 309 / 7739
22
 (HPO:0003273) Hip contracture 30 / 7739
23
 (HPO:0002827) Hip dislocation 94 / 7739
24
 (HPO:0012385) Camptodactyly 113 / 7739
25
 (HPO:0006380) Knee flexion contracture 56 / 7739
26
 (HPO:0002751) Kyphoscoliosis 131 / 7739
27
 (HPO:0001838) Rocker bottom foot 85 / 7739
28
 (HPO:0003298) Spina bifida occulta 67 / 7739
29
 (HPO:0001623) Breech presentation 16 / 7739
30
 (HPO:0000023) Inguinal hernia 181 / 7739
31
 (HPO:0001508) Failure to thrive 454 / 7739
32
 (HPO:0008897) Postnatal growth retardation 113 / 7739
33
 (HPO:0001510) Growth delay 295 / 7739
34
 (HPO:0001518) Small for gestational age 107 / 7739
35
 (HPO:0002047) Malignant hyperthermia 20 / 7739
36
 (HPO:0001611) Nasal speech 48 / 7739
37
 (OMIM) Hyperpyrexia, usually associated with anesthesia 1 / 7739
38
 (OMIM) Mild muscle weakness 4 / 7739
39
 (OMIM) Shoulder contractures 3 / 7739
40
 (OMIM) Increased interstitial connective tissue 1 / 7739
41
 (OMIM) Skeletal muscle biopsy shows fiber size variability 1 / 7739
42
 (OMIM) Ulnar deviation 5 / 7739
43
 (OMIM) Contracted toes 1 / 7739
44
 (OMIM) Small type 1 fibers 1 / 7739
45
 (OMIM) H-shaped chin dimple 1 / 7739
46
 (OMIM) Thickened skin over flexor surface of proximal phalanges 1 / 7739
47
 (OMIM) Full forehead 2 / 7739
48
 (OMIM) Type 1 fiber type predominance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often ...
Clinical Description OMIM In craniocarpotarsal dystrophy, a syndrome first described by Freeman and Sheldon (1938), certain skeletal malformations are associated with facial characteristics. The main skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, and an abnormal x-ray appearance of the ...
Molecular genetics OMIM Toydemir et al. (2006) screened 28 FSS probands (7 familial and 21 sporadic) for mutations in genes that encode myosin heavy chains. They found a mutation in the MYH3 gene in 26 of 28 FSS cases, including 12 ...