Freeman-Sheldon syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Whistling face syndrome
Distal arthrogryposis type 2A
Craniocarpotarsal dystrophy
Craniocarpotarsal dysplasia
Number of Symptoms 75
OrphanetNr: 2053
OMIM Id: 193700
277720
ICD-10: Q87.0
UMLs: C0265224
MeSH: C535483
MedDRA:
Snomed: 52616002

Prevalence, inheritance and age of onset:

Prevalence: 100 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Distal arthrogryposis
 -Rare developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0000506) Telecanthus 156 / 7739
4
 (HPO:0000346) Whistling appearance 4 / 7739
5
 (HPO:0000430) Underdeveloped nasal alae Very frequent [Orphanet] 90 / 7739
6
 (HPO:0011824) Chin with H-shaped crease 1 / 7739
7
 (HPO:0011220) Prominent forehead 137 / 7739
8
 (HPO:0000286) Epicanthus 371 / 7739
9
 (HPO:0000298) Mask-like facies 44 / 7739
10
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
12
 (HPO:0000470) Short neck 345 / 7739
13
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
14
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
15
 (HPO:0000303) Mandibular prognathia 179 / 7739
16
 (HPO:0000581) Blepharophimosis 197 / 7739
17
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
18
 (HPO:0000272) Malar flattening 277 / 7739
19
 (HPO:0000164) Abnormality of the teeth Very frequent [Orphanet] 291 / 7739
20
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
21
 (HPO:0000153) Abnormality of the mouth Very frequent [Orphanet] 60 / 7739
22
 (HPO:0000218) High palate 356 / 7739
23
 (HPO:0009933) Narrow naris Frequent [Orphanet] 16 / 7739
24
 (HPO:0010751) Chin dimple Very frequent [Orphanet] 16 / 7739
25
 (HPO:0000252) Microcephaly 832 / 7739
26
 (HPO:0003196) Short nose 264 / 7739
27
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
28
 (HPO:0012368) Flat face 106 / 7739
29
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
30
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
31
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
32
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
33
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
34
 (HPO:0001250) Seizures 1245 / 7739
35
 (HPO:0001249) Intellectual disability 31% [HPO:probinson] 1089 / 7739
36
 (HPO:0006958) Abnormal auditory evoked potentials 12 / 7739
37
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
38
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
39
 (HPO:0002827) Hip dislocation 94 / 7739
40
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
41
 (HPO:0003273) Hip contracture 30 / 7739
42
 (HPO:0009465) Ulnar deviation of finger Very frequent [Orphanet] 48 / 7739
43
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
44
 (HPO:0003044) Shoulder flexion contracture 5 / 7739
45
 (HPO:0001762) Talipes equinovarus Very frequent [Orphanet] 309 / 7739
46
 (HPO:0002751) Kyphoscoliosis 131 / 7739
47
 (HPO:0009473) Joint contracture of the hand 84 / 7739
48
 (HPO:0005830) Flexion contracture of toe 9 / 7739
49
 (HPO:0001181) Adducted thumb 31 / 7739
50
 (HPO:0012385) Camptodactyly 113 / 7739
51
 (HPO:0001838) Rocker bottom foot 85 / 7739
52
 (HPO:0006380) Knee flexion contracture 56 / 7739
53
 (HPO:0010489) Absent palmar crease Occasional [Orphanet] 5 / 7739
54
 (HPO:0003298) Spina bifida occulta 67 / 7739
55
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
56
 (HPO:0001562) Oligohydramnios Occasional [Orphanet] 75 / 7739
57
 (HPO:0001561) Polyhydramnios Occasional [Orphanet] 191 / 7739
58
 (HPO:0001557) Prenatal movement abnormality Frequent [Orphanet] 16 / 7739
59
 (HPO:0001623) Breech presentation 16 / 7739
60
 (HPO:0000023) Inguinal hernia 181 / 7739
61
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
62
 (HPO:0001518) Small for gestational age 107 / 7739
63
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
64
 (HPO:0001508) Failure to thrive 454 / 7739
65
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
66
 (HPO:0008897) Postnatal growth retardation 113 / 7739
67
 (HPO:0000951) Abnormality of the skin 147 / 7739
68
 (HPO:0001945) Fever 218 / 7739
69
 (HPO:0002047) Malignant hyperthermia Frequent [Orphanet] 20 / 7739
70
 (HPO:0001611) Nasal speech 48 / 7739
71
 (HPO:0001324) Muscle weakness 859 / 7739
72
 (HPO:0001272) Cerebellar atrophy 197 / 7739
73
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
74
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
75
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: