WHISTLING FACE SYNDROME, RECESSIVE FORM

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 35
OrphanetNr:
OMIM Id: 277720
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
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:0000160) Narrow mouth 188 / 7739
3
(HPO:0000581) Blepharophimosis 197 / 7739
4
(HPO:0000470) Short neck 345 / 7739
5
(HPO:0000316) Hypertelorism 644 / 7739
6
(HPO:0000171) Microglossia 27 / 7739
7
(HPO:0000272) Malar flattening 277 / 7739
8
(HPO:0000430) Underdeveloped nasal alae 90 / 7739
9
(HPO:0000218) High palate 356 / 7739
10
(HPO:0000506) Telecanthus 156 / 7739
11
(HPO:0000426) Prominent nasal bridge 121 / 7739
12
(HPO:0000346) Whistling appearance 4 / 7739
13
(HPO:0000347) Micrognathia 426 / 7739
14
(HPO:0000286) Epicanthus 371 / 7739
15
(HPO:0010751) Chin dimple 16 / 7739
16
(HPO:0000508) Ptosis 459 / 7739
17
(HPO:0002751) Kyphoscoliosis 131 / 7739
18
(HPO:0001371) Flexion contracture 220 / 7739
19
(HPO:0004097) Deviation of finger 13 / 7739
20
(HPO:0001762) Talipes equinovarus 309 / 7739
21
(HPO:0012385) Camptodactyly 113 / 7739
22
(HPO:0003044) Shoulder flexion contracture 5 / 7739
23
(HPO:0006380) Knee flexion contracture 56 / 7739
24
(HPO:0009465) Ulnar deviation of finger 48 / 7739
25
(HPO:0002987) Elbow flexion contracture 64 / 7739
26
(HPO:0000023) Inguinal hernia 181 / 7739
27
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
(MedDRA:10020741) Hyperpyrexia 2 / 7739
29
(HPO:0012745) Short palpebral fissure 47 / 7739
30
(HPO:0011800) Midface retrusion 221 / 7739
31
(OMIM) Limited jaw opening 1 / 7739
32
(OMIM) H or V-shaped chin dimple 1 / 7739
33
(OMIM) Shoulder contractures 3 / 7739
34
(OMIM) Immobile facies 1 / 7739
35
(OMIM) Notched nostrils 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Whistling face syndrome is characterized by an atypical facial appearance with anomalies of the hands and feet. Most cases show autosomal dominant inheritance: see distal arthrogryposis 2A (DA2A; 193700). There are rare reports of presumably autosomal recessive inheritance ...
Clinical Description OMIM The whistling face syndrome was first described as craniocarpotarsal dystrophy by Freeman and Sheldon (1938). Burian (1963) rediscovered the entity and called it the 'whistling face syndrome.'

Zampino et al. (1996) described a sporadic case of ...