Ulnar-mammary syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PALLISTER ULNAR-MAMMARY SYNDROME
UMS
schinzel syndrome
Ulnar-mammary syndrome of Pallister
Number of Symptoms 75
OrphanetNr: 3138
OMIM Id: 181450
ICD-10: Q71.8
UMLs: C1866994
MeSH: C536937
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Deficient breast volume or number
 -Rare gynecologic or obstetric disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndrome with limb reduction defects
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic obesity
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
3
 (HPO:0000148) Vaginal atresia 16 / 7739
4
 (HPO:0000049) Shawl scrotum 31 / 7739
5
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
6
 (HPO:0000789) Infertility Frequent [Orphanet] 74 / 7739
7
 (HPO:0000142) Abnormality of the vagina 24 / 7739
8
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
9
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
10
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
11
 (HPO:0005338) Sparse lateral eyebrow 21 / 7739
12
 (HPO:0000668) Hypodontia 81 / 7739
13
 (HPO:0002557) Hypoplastic nipples 33 / 7739
14
 (HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
15
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Frequent [Orphanet] 28 / 7739
16
 (HPO:0003187) Breast hypoplasia 17 / 7739
17
 (HPO:0003186) Inverted nipples 15 / 7739
18
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
19
 (HPO:0010627) Anterior pituitary hypoplasia 6 / 7739
20
 (HPO:0000823) Delayed puberty 65 / 7739
21
 (HPO:0011755) Ectopic posterior pituitary 4 / 7739
22
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
23
 (HPO:0009380) Aplasia of the fingers Very frequent [Orphanet] 51 / 7739
24
 (HPO:0009751) Aplasia of the pectoralis major muscle Occasional [Orphanet] 8 / 7739
25
 (HPO:0100259) Postaxial polydactyly 85 / 7739
26
 (HPO:0000912) Sprengel anomaly Occasional [Orphanet] 51 / 7739
27
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
28
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
29
 (HPO:0004050) Absent hand Occasional [Orphanet] 9 / 7739
30
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
31
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
32
 (HPO:0003019) Abnormality of the wrist Frequent [Orphanet] 52 / 7739
33
 (HPO:0008093) Short 4th toe 3 / 7739
34
 (HPO:0009882) Short distal phalanx of finger Occasional [Orphanet] 125 / 7739
35
 (HPO:0003974) Absent radius 26 / 7739
36
 (HPO:0003977) Deformed radius 1 / 7739
37
 (HPO:0003982) Absent ulna 7 / 7739
38
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
39
 (HPO:0000894) Short clavicles 30 / 7739
40
 (HPO:0005792) Short humerus 34 / 7739
41
 (HPO:0011917) Short 5th toe 2 / 7739
42
 (HPO:0002997) Abnormality of the ulna Very frequent [Orphanet] 75 / 7739
43
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
44
 (HPO:0003063) Abnormality of the humerus Occasional [Orphanet] 36 / 7739
45
 (HPO:0001162) Postaxial hand polydactyly Occasional [Orphanet] 119 / 7739
46
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
47
 (HPO:0002023) Anal atresia Occasional [Orphanet] 135 / 7739
48
 (HPO:0001545) Anteriorly placed anus Occasional [Orphanet] 55 / 7739
49
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
50
 (HPO:0002021) Pyloric stenosis Occasional [Orphanet] 51 / 7739
51
 (HPO:0002025) Anal stenosis 23 / 7739
52
 (HPO:0000023) Inguinal hernia 181 / 7739
53
 (HPO:0001513) Obesity Frequent [Orphanet] 172 / 7739
54
 (HPO:0001510) Growth delay 295 / 7739
55
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
56
 (HPO:0001800) Hypoplastic toenails Occasional [Orphanet] 74 / 7739
57
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
58
 (HPO:0001231) Abnormality of the fingernails Very frequent [Orphanet] 116 / 7739
59
 (HPO:0007397) Axillary apocrine gland hypoplasia 1 / 7739
60
 (HPO:0002215) Sparse axillary hair 21 / 7739
61
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
62
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
63
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
64
 (HPO:0001601) Laryngomalacia Occasional [Orphanet] 61 / 7739
65
 (HPO:0001607) Subglottic stenosis 5 / 7739
66
 (OMIM) Hypoplastic/absent/deformed ulna 1 / 7739
67
 (OMIM) Wolff-Parkinson-White arrhythmia 2 / 7739
68
 (OMIM) Scant lateral eyebrows 1 / 7739
69
 (OMIM) Ectopic upper canines 1 / 7739
70
 (OMIM) Short fourth and fifth toes 1 / 7739
71
 (OMIM) Hypoplastic/absent/deformed radius 1 / 7739
72
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
73
 (OMIM) Absent 3rd, 4th, and 5th ulnar rays 1 / 7739
74
 (OMIM) Thin pituitary stalk 1 / 7739
75
 (HPO:0030011) Imperforate hymen 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).
Clinical Description OMIM Schinzel (1973) studied a Swiss kindred in which the proband, brother, father, and nephew had ulnar ray defects, small penis, delayed puberty, and obesity; the proband and his father also had anal atresia. The hand malformation varied from ...
Molecular genetics OMIM Bamshad et al. (1997) demonstrated that mutations in the TBX3 gene are responsible for UMS. In 1 family, they demonstrated heterozygosity for a 1-bp deletion that caused a frameshift and premature termination of the TBX3 gene product (601621.0001). ...