SHORT syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SHORT STATURE, HYPEREXTENSIBILITY, HERNIA, OCULAR DEPRESSION, RIEGER ANOMALY, AND TEETHING DELAY
LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE
Aarskog-Ose-Pande syndrome
Lipodystrophy - Rieger anomaly - diabetes
Rieger anomaly - partial lipodystrophy
Number of Symptoms 74
OrphanetNr: 3163
OMIM Id: 269880
ICD-10: Q87.1
UMLs: C0878684
MeSH: C537327
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 30 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic lipodystrophy
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease
Genetic malformation syndrome with short stature
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Genetic progeroid syndrome
 -Rare genetic disease
Insulin-resistance syndrome
 -Rare endocrine disease
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Progeroid syndrome
 -Rare developmental defect during embryogenesis
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic hyperopia
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
2
 (HPO:0011220) Prominent forehead 137 / 7739
3
 (HPO:0000689) Dental malocclusion 114 / 7739
4
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
5
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 366 / 7739
8
 (HPO:0000336) Prominent supraorbital ridges Occasional [Orphanet] 45 / 7739
9
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
10
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
11
 (HPO:0000506) Telecanthus Occasional [Orphanet] 156 / 7739
12
 (HPO:0000271) Abnormality of the face Frequent [Orphanet] 108 / 7739
13
 (HPO:0000691) Microdontia Frequent [Orphanet] 104 / 7739
14
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
15
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
16
 (HPO:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
17
 (HPO:0010751) Chin dimple 16 / 7739
18
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
19
 (HPO:0000490) Deeply set eye Very frequent [Orphanet] 131 / 7739
20
 (HPO:0000668) Hypodontia 81 / 7739
21
 (HPO:0000325) Triangular face Occasional [Orphanet] 91 / 7739
22
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
23
 (HPO:0000518) Cataract 454 / 7739
24
 (HPO:0008053) Aplasia/Hypoplasia of the iris Very frequent [Orphanet] 38 / 7739
25
 (HPO:0000558) Rieger anomaly 5 / 7739
26
 (HPO:0000627) Posterior embryotoxon Occasional [Orphanet] 15 / 7739
27
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
28
 (HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
29
 (HPO:0000485) Megalocornea Frequent [Orphanet] 26 / 7739
30
 (HPO:0007700) Anterior segment dysgenesis Occasional [Orphanet] 9 / 7739
31
 (HPO:0000615) Abnormality of the pupil Frequent [Orphanet] 39 / 7739
32
 (HPO:0000545) Myopia 286 / 7739
33
 (HPO:0000593) Abnormality of the anterior chamber Very frequent [Orphanet] 15 / 7739
34
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
35
 (HPO:0000400) Macrotia 108 / 7739
36
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
37
 (HPO:0000750) Delayed speech and language development 197 / 7739
38
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
39
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
40
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
41
 (HPO:0001161) Hand polydactyly Occasional [Orphanet] 71 / 7739
42
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
43
 (HPO:0001388) Joint laxity 117 / 7739
44
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
45
 (HPO:0010580) Enlarged epiphyses 14 / 7739
46
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
47
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
48
 (HPO:0009466) Radial deviation of finger 101 / 7739
49
 (HPO:0000023) Inguinal hernia 181 / 7739
50
 (HPO:0004299) Hernia of the abdominal wall Very frequent [Orphanet] 176 / 7739
51
 (HPO:0003561) Birth length less than 3rd percentile 10 / 7739
52
 (HPO:0001518) Small for gestational age 107 / 7739
53
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
54
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
55
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
56
 (HPO:0100678) Premature skin wrinkling Frequent [Orphanet] 25 / 7739
57
 (HPO:0000963) Thin skin 96 / 7739
58
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
59
 (HPO:0000855) Insulin resistance Frequent [Orphanet] 32 / 7739
60
 (HPO:0000833) Glucose intolerance 20 / 7739
61
 (HPO:0003074) Hyperglycemia 37 / 7739
62
 (HPO:0002715) Abnormality of the immune system 46 / 7739
63
 (HPO:0002486) Myotonia Occasional [Orphanet] 29 / 7739
64
 (HPO:0009125) Lipodystrophy Frequent [Orphanet] 54 / 7739
65
 (HPO:0100578) Lipoatrophy 30 / 7739
66
 (MedDRA:10058668) Clinodactyly 91 / 7739
67
 (OMIM) Thin, wrinkled skin 2 / 7739
68
 (OMIM) Frequent illnesses 1 / 7739
69
 (OMIM) Birth weight less than 3rd percentile 6 / 7739
70
 (OMIM) Dimples (chin, buttocks) 4 / 7739
71
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
72
 (OMIM) Gracile diaphyses 1 / 7739
73
 (OMIM) Normal intelligence 81 / 7739
74
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 'Short,' the mnemonic designation for this syndrome, is an acronym: S = stature; H = hyperextensibility of joints or hernia (inguinal) or both; O = ocular depression; R = Rieger anomaly; T = teething delay. The name was ...
Clinical Description OMIM Sensenbrenner et al. (1975) described a 6-year-old girl with Rieger anomaly, short stature, and partial lipodystrophy of the face and upper limbs. She also had delayed dental eruption, delayed bone age, and hyperextensibility of the joints. Gorlin (1975) ...
Molecular genetics OMIM By whole-exome sequencing in 2 unrelated patients with SHORT syndrome, Thauvin-Robinet et al. (2013) identified de novo mutations in the PIK3R1 gene (171833.0002 and 171833.0003). Screening PIK3R1 for mutations in 4 more affected individuals from 3 families, including ...