Progeria - short stature - pigmented nevi

General Information (adopted from Orphanet):

Synonyms, Signs: mulvihill-smith syndrome
Number of Symptoms 69
OrphanetNr: 2959
OMIM Id: 176690
ICD-10:
UMLs: C1261128
MeSH: C536422
MedDRA:
Snomed: 399947002

Prevalence, inheritance and age of onset:

Prevalence: < 10 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic progeroid syndrome
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Premature aging
 -Rare genetic disease
 -Rare skin disease
Progeroid syndrome
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000041) Chordee 11 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000786) Primary amenorrhea Frequent [Orphanet] 61 / 7739
4
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
5
 (HPO:0000246) Sinusitis Frequent [Orphanet] 73 / 7739
6
 (HPO:0000668) Hypodontia 81 / 7739
7
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
8
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
9
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
10
 (HPO:0003193) Allergic rhinitis 6 / 7739
11
 (HPO:0007879) Allergic conjunctivitis 1 / 7739
12
 (HPO:0000518) Cataract 454 / 7739
13
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
14
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
15
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
16
 (HPO:0005101) High-frequency hearing impairment 16 / 7739
17
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
18
 (HPO:0001249) Intellectual disability 1089 / 7739
19
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
20
 (HPO:0000819) Diabetes mellitus 131 / 7739
21
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
22
 (HPO:0000823) Delayed puberty 65 / 7739
23
 (HPO:0002943) Thoracic scoliosis 12 / 7739
24
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
25
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
26
 (HPO:0001367) Abnormal joint morphology 53 / 7739
27
 (HPO:0002013) Vomiting 191 / 7739
28
 (HPO:0002017) Nausea and vomiting Occasional [Orphanet] 134 / 7739
29
 (HPO:0004791) Esophageal ulceration 1 / 7739
30
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
31
 (HPO:0002592) Gastric ulcer Occasional [Orphanet] 39 / 7739
32
 (HPO:0002577) Abnormality of the stomach Occasional [Orphanet] 84 / 7739
33
 (HPO:0001518) Small for gestational age 107 / 7739
34
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
35
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
36
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
37
 (HPO:0001054) Numerous nevi 8 / 7739
38
 (HPO:0001052) Nevus flammeus Very frequent [Orphanet] 88 / 7739
39
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
40
 (HPO:0000958) Dry skin Frequent [Orphanet] 152 / 7739
41
 (HPO:0000995) Melanocytic nevus Very frequent [Orphanet] 63 / 7739
42
 (HPO:0007587) Numerous pigmented freckles Frequent [Orphanet] 22 / 7739
43
 (HPO:0001000) Abnormality of skin pigmentation Very frequent [Orphanet] 105 / 7739
44
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
45
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
46
 (HPO:0001650) Aortic valve stenosis 49 / 7739
47
 (HPO:0005435) Impaired T cell function 9 / 7739
48
 (HPO:0001888) Lymphopenia Occasional [Orphanet] 43 / 7739
49
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
50
 (HPO:0001620) High pitched voice 32 / 7739
51
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
52
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
53
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
54
 (HPO:0002721) Immunodeficiency 97 / 7739
55
 (HPO:0005352) Severe T-cell immunodeficiency Frequent [Orphanet] 20 / 7739
56
 (HPO:0005364) Severe viral infections 2 / 7739
57
 (HPO:0009125) Lipodystrophy Very frequent [Orphanet] 54 / 7739
58
 (HPO:0005320) Lack of facial subcutaneous fat 1 / 7739
59
 (OMIM) Development of tumors in adulthood 1 / 7739
60
 (OMIM) Irregular dentition 6 / 7739
61
 (OMIM) Sleep disorder with severe insomnia (in adulthood) 1 / 7739
62
 (OMIM) Mental retardation, mild to moderate 33 / 7739
63
 (HPO:0040079) Irregular dentition 7 / 7739
64
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
65
 (OMIM) Reduced joint mobility 1 / 7739
66
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
67
 (OMIM) Cognitive decline in adulthood 1 / 7739
68
 (OMIM) Bird-like face 1 / 7739
69
 (MedDRA:10036601) Premature menopause 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Mulvihill-Smith syndrome is characterized by premature aging, multiple pigmented nevi, lack of facial subcutaneous fat, microcephaly, short stature, sensorineural hearing loss, and mental retardation. Immunodeficiency may also be a feature. Adult manifestations include the development of tumors, a ...
Clinical Description OMIM Shepard (1971) reported a case of low-birth-weight dwarfism with mild to moderate mental retardation, striking multiple pigmented nevi, and lack of facial subcutaneous fat, causing a somewhat bird-like face. Elliott (1975) gave further information on this patient, and ...