AARSKOG SYNDROME, AUTOSOMAL DOMINANT

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 45
OrphanetNr:
OMIM Id: 100050
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
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:0000049) Shawl scrotum 31 / 7739
3
 (HPO:0004792) Rectoperineal fistula 3 / 7739
4
 (HPO:0000202) Oral cleft 120 / 7739
5
 (HPO:0000316) Hypertelorism 644 / 7739
6
 (HPO:0000463) Anteverted nares 305 / 7739
7
 (HPO:0000431) Wide nasal bridge 290 / 7739
8
 (HPO:0000343) Long philtrum 262 / 7739
9
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
10
 (HPO:0002055) Curved linear dimple below the lower lip 3 / 7739
11
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
12
 (HPO:0000349) Widow's peak 26 / 7739
13
 (HPO:0000508) Ptosis 459 / 7739
14
 (HPO:0000486) Strabismus 576 / 7739
15
 (HPO:0000484) Hyperopic astigmatism 8 / 7739
16
 (HPO:0000602) Ophthalmoplegia 56 / 7739
17
 (HPO:0000394) Lop ear 6 / 7739
18
 (HPO:0005190) Proximal finger joint hyperextensibility 2 / 7739
19
 (HPO:0002816) Genu recurvatum 30 / 7739
20
 (HPO:0000954) Single transverse palmar crease 162 / 7739
21
 (HPO:0001763) Pes planus 176 / 7739
22
 (HPO:0003318) Cervical spine hypermobility 3 / 7739
23
 (HPO:0010886) Osteochondritis Dissecans 9 / 7739
24
 (HPO:0001380) Ligamentous laxity 8 / 7739
25
 (HPO:0002240) Hepatomegaly 467 / 7739
26
 (HPO:0002023) Anal atresia 135 / 7739
27
 (HPO:0000974) Hyperextensible skin 59 / 7739
28
 (HPO:0001972) Macrocytic anemia 26 / 7739
29
 (HPO:0006530) Interstitial pulmonary disease 26 / 7739
30
 (MedDRA:10072883) Brachydactyly 153 / 7739
31
 (OMIM) Floppy ears 2 / 7739
32
 (OMIM) Large cornea 4 / 7739
33
 (OMIM) Lymphedema of the feet 1 / 7739
34
 (OMIM) Mild to moderate short stature 7 / 7739
35
 (OMIM) Odontoid anomaly 1 / 7739
36
 (OMIM) Saddle-bag scrotum 1 / 7739
37
 (OMIM) Mild syndactyly 4 / 7739
38
 (OMIM) Digital contractures 2 / 7739
39
 (OMIM) Portal cirrhosis 1 / 7739
40
 (OMIM) Sternal deformity 2 / 7739
41
 (OMIM) Flexed distal finger joints 1 / 7739
42
 (OMIM) Broad upper lip 1 / 7739
43
 (MedDRA:10058668) Clinodactyly 91 / 7739
44
 (OMIM) Normocephaly 10 / 7739
45
 (OMIM) Hemochromatosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Aarskog syndrome is characterized by short stature and facial, limb, and genital anomalies. One form of the disorder is X-linked (see 305400), but there is also evidence for autosomal dominant and autosomal recessive (227330) inheritance (summary by Grier ...
Clinical Description OMIM Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. Stretchable skin was present in these patients.