Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: SOFT
soft syndrome
Number of Symptoms 62
OrphanetNr: 314394
OMIM Id: 614813
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Slender bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000060) Clitoral hypoplasia rare [HPO:skoehler] 9 / 7739
2
 (HPO:0000798) Oligospermia 13 / 7739
3
 (HPO:0000256) Macrocephaly 298 / 7739
4
 (HPO:0000490) Deeply set eye rare [HPO:skoehler] 131 / 7739
5
 (HPO:0000448) Prominent nose 56 / 7739
6
 (HPO:0000252) Microcephaly 832 / 7739
7
 (HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
8
 (HPO:0000303) Mandibular prognathia 179 / 7739
9
 (HPO:0011220) Prominent forehead 137 / 7739
10
 (HPO:0000164) Abnormality of the teeth rare [HPO:skoehler] 291 / 7739
11
 (HPO:0000307) Pointed chin 45 / 7739
12
 (HPO:0000325) Triangular face 91 / 7739
13
 (HPO:0000276) Long face 109 / 7739
14
 (HPO:0008551) Microtia 98 / 7739
15
 (HPO:0002515) Waddling gait 56 / 7739
16
 (HPO:0002376) Developmental regression rare [HPO:skoehler] 74 / 7739
17
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
18
 (HPO:0003187) Breast hypoplasia rare [HPO:skoehler] 17 / 7739
19
 (HPO:0005978) Type II diabetes mellitus 68 / 7739
20
 (HPO:0000819) Diabetes mellitus rare [HPO:skoehler] 131 / 7739
21
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
22
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
23
 (HPO:0100864) Short femoral neck 36 / 7739
24
 (HPO:0200055) Small hand 71 / 7739
25
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
26
 (HPO:0010743) Short metatarsal 56 / 7739
27
 (HPO:0001216) Delayed ossification of carpal bones 30 / 7739
28
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
29
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
30
 (HPO:0010049) Short metacarpal 99 / 7739
31
 (HPO:0004590) Hypoplastic sacrum 4 / 7739
32
 (HPO:0001518) Small for gestational age 107 / 7739
33
 (HPO:0008897) Postnatal growth retardation 113 / 7739
34
 (HPO:0003498) Disproportionate short stature 28 / 7739
35
 (HPO:0008070) Sparse hair 94 / 7739
36
 (HPO:0001792) Small nail 55 / 7739
37
 (HPO:0001620) High pitched voice 32 / 7739
38
 (HPO:0010547) Muscle flaccidity 466 / 7739
39
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
40
 (HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
41
 (HPO:0001324) Muscle weakness 859 / 7739
42
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
43
 (OMIM) Hypoplastic pelvis and sacrum 1 / 7739
44
 (OMIM) Short tarsals 1 / 7739
45
 (OMIM) Clitoral hypoplasia/aplasia (rare) 1 / 7739
46
 (OMIM) Short stature, disproportionate, prenatal onset 1 / 7739
47
 (OMIM) Irregular metaphyseal changes, mild 1 / 7739
48
 (OMIM) Short long bones, especially femurs and humeri 1 / 7739
49
 (OMIM) Microcephaly in adulthood 1 / 7739
50
 (OMIM) Unusual, high-pitched voice 1 / 7739
51
 (OMIM) Dental anomalies, variable (in some patients) 1 / 7739
52
 (MedDRA:10072883) Brachydactyly 153 / 7739
53
 (MedDRA:10058668) Clinodactyly 91 / 7739
54
 (OMIM) Macrocephaly, relative, in childhood 1 / 7739
55
 (HPO:0030084) Clinodactyly 90 / 7739
56
 (OMIM) Thick long bones 1 / 7739
57
 (OMIM) Vertebral body ossification delay 1 / 7739
58
 (OMIM) Dolicocephaly (in some patients) 3 / 7739
59
 (OMIM) Azoozpermia 1 / 7739
60
 (OMIM) Sparse hair after puberty 1 / 7739
61
 (OMIM) Short carpals 1 / 7739
62
 (OMIM) Short long bones of hand 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach ...
Clinical Description OMIM Turnpenny and Thwaites (1992) reported a 14-month-old girl, born of consanguineous parents, who had short stature of prenatal onset, rhizomelic limb shortness particularly affecting the upper limbs, and unusual face. Features included relative macrocephaly, frontal balding, midface hypoplasia, ...
Molecular genetics OMIM Shaheen et al. (2012) performed autozygome analysis on 2 sisters with primordial dwarfism from a consanguineous Saudi family but found no shared overlap with known autosomal recessive causes of this disorder. Exome sequencing and autozygome filtration revealed homozygosity ...