SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, ANDSKELETAL ABNORMALITIES

General Information (adopted from Orphanet):

Synonyms, Signs: SAMS
Number of Symptoms 26
OrphanetNr:
OMIM Id: 602471
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:0000028) Cryptorchidism 347 / 7739
2
(HPO:0000601) Hypotelorism 83 / 7739
3
(HPO:0000160) Narrow mouth 188 / 7739
4
(HPO:0000347) Micrognathia 426 / 7739
5
(HPO:0000218) High palate 356 / 7739
6
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
7
(HPO:0000272) Malar flattening 277 / 7739
8
(HPO:0000490) Deeply set eye 131 / 7739
9
(HPO:0000405) Conductive hearing impairment 164 / 7739
10
(HPO:0004467) Preauricular pit 39 / 7739
11
(HPO:0000413) Atresia of the external auditory canal 32 / 7739
12
(HPO:0008905) Rhizomelia 85 / 7739
13
(HPO:0003083) Dislocated radial head 35 / 7739
14
(HPO:0002827) Hip dislocation 94 / 7739
15
(HPO:0000882) Hypoplastic scapulae 28 / 7739
16
(HPO:0006595) Scapulohumeral synostosis 1 / 7739
17
(HPO:0008785) Delayed ossification of pubic rami 1 / 7739
18
(HPO:0001371) Flexion contracture 220 / 7739
19
(HPO:0005792) Short humerus 34 / 7739
20
(HPO:0001762) Talipes equinovarus 309 / 7739
21
(HPO:0011968) Feeding difficulties 240 / 7739
22
(HPO:0004322) Short stature 1232 / 7739
23
(OMIM) Normal intelligence 81 / 7739
24
(HPO:0003577) Congenital onset 133 / 7739
25
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
(OMIM) Bilateral humeral hypoplasia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Lemire et al. (1998) described a 9-year-old girl, the daughter of consanguineous Mennonite parents, who had a seemingly unique multiple congenital anomaly syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. The skeletal defects ...