SOFT
MCID: SHR059
MIFTS: 35

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (SOFT)

Categories: Bone diseases, Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

MalaCards integrated aliases for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

Name: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 58 76 30 13 6
Soft Syndrome 58 60 76
Soft 58 76
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome 74
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome 60
Stature, Short, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 41

Characteristics:

Orphanet epidemiological data:

60
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

33
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

UniProtKB/Swiss-Prot : 76 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis: A syndrome 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 a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high- pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone- shaped epiphyses. Vertebral body ossification is also delayed.

MalaCards based summary : Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis, also known as soft syndrome, is related to alveolar soft part sarcoma and soft tissue sarcoma, and has symptoms including waddling gait An important gene associated with Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis is POC1A (POC1 Centriolar Protein A). Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and diabetes mellitus

OMIM : 58 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 a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). (614813)

Related Diseases for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1310)
# Related Disease Score Top Affiliating Genes
1 alveolar soft part sarcoma 12.7
2 soft tissue sarcoma 12.6
3 cleft soft palate 12.5
4 soft palate cancer 12.3
5 melanoma of soft tissue 12.3
6 necrotizing soft tissue infection 12.3
7 cervical alveolar soft part sarcoma 12.2
8 vulvar alveolar soft part sarcoma 12.2
9 malignant giant cell tumor of soft parts 12.2
10 soft tissue peripheral neuroepithelioma 12.2
11 extramedullary soft tissue plasmacytoma 12.1
12 soft tissue sarcoma childhood 12.0
13 sarcoma 11.9
14 clear cell sarcoma 11.9
15 connective tissue benign neoplasm 11.8
16 extraskeletal chondroma 11.7
17 kaposi sarcoma 11.6
18 sarcoma, synovial 11.6
19 undifferentiated pleomorphic sarcoma 11.6
20 fibrosarcoma 11.6
21 epithelioid sarcoma 11.6
22 mesomelia-synostoses syndrome 11.5
23 klippel-trenaunay-weber syndrome 11.5
24 dermatofibrosarcoma protuberans 11.5
25 rhabdoid cancer 11.5
26 cleft palate, isolated 11.5
27 hemangiopericytoma, malignant 11.5
28 myxoid liposarcoma 11.5
29 perineurioma 11.5
30 extraneural perineurioma 11.5
31 rhabdomyosarcoma 2 11.4
32 chondrosarcoma, extraskeletal myxoid 11.4
33 rhabdomyosarcoma 11.4
34 leiomyosarcoma 11.4
35 chondrosarcoma 11.4
36 chordoma 11.3
37 ewing sarcoma 11.3
38 liposarcoma 11.3
39 necrotizing fasciitis 11.3
40 kimura disease 11.3
41 plasmacytoma 11.3
42 hemifacial microsomia 11.3
43 infantile myofibromatosis 11.3
44 li-fraumeni syndrome 11.3
45 hemifacial atrophy, progressive 11.2
46 calcinosis 11.2
47 gastrointestinal stromal tumor 11.2
48 muscle cancer 11.2
49 fibromatosis 11.2
50 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.2

Graphical network of the top 20 diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:



Diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Symptoms & Phenotypes for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Human phenotypes related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

33 (show all 36)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 33 occasional (7.5%) HP:0000316
2 diabetes mellitus 33 occasional (7.5%) HP:0000819
3 developmental regression 33 occasional (7.5%) HP:0002376
4 global developmental delay 33 occasional (7.5%) HP:0001263
5 abnormality of the dentition 33 occasional (7.5%) HP:0000164
6 deeply set eye 33 occasional (7.5%) HP:0000490
7 generalized hypotonia 33 occasional (7.5%) HP:0001290
8 breast hypoplasia 33 occasional (7.5%) HP:0003187
9 clitoral hypoplasia 33 occasional (7.5%) HP:0000060
10 macrocephaly 33 HP:0000256
11 clinodactyly 33 HP:0030084
12 mandibular prognathia 33 HP:0000303
13 microtia 33 HP:0008551
14 microcephaly 33 HP:0000252
15 prominent forehead 33 HP:0011220
16 cone-shaped epiphysis 33 HP:0010579
17 waddling gait 33 HP:0002515
18 small nail 33 HP:0001792
19 small hand 33 HP:0200055
20 brachydactyly 33 HP:0001156
21 long face 33 HP:0000276
22 pointed chin 33 HP:0000307
23 nail dysplasia 33 HP:0002164
24 hypoplastic pelvis 33 HP:0008839
25 short distal phalanx of finger 33 HP:0009882
26 triangular face 33 HP:0000325
27 high pitched voice 33 HP:0001620
28 short metacarpal 33 HP:0010049
29 sparse hair 33 HP:0008070
30 oligospermia 33 HP:0000798
31 prominent nose 33 HP:0000448
32 disproportionate short stature 33 HP:0003498
33 small for gestational age 33 HP:0001518
34 short metatarsal 33 HP:0010743
35 short femoral neck 33 HP:0100864
36 hypoplastic sacrum 33 HP:0004590

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly
brachydactyly
short metacarpals
cone-shaped epiphyses
small hands
more
Genitourinary Internal Genitalia Male:
oligospermia
azoozpermia

Skeletal Limbs:
short femoral neck
short long bones, especially femurs and humeri
thick long bones
irregular metaphyseal changes, mild

Head And Neck Ears:
small ears

Growth Weight:
low birth weight

Neurologic Central Nervous System:
hypotonia (rare)
psychomotor delay (rare)

Head And Neck Head:
dolicocephaly (rare)
macrocephaly, relative, in childhood
microcephaly in adulthood

Head And Neck Teeth:
dental anomalies, variable (in some patients)

Genitourinary External Genitalia Female:
clitoral hypoplasia/aplasia (rare)

Skeletal Spine:
vertebral body ossification delay

Skin Nails Hair Hair:
sparse hair after puberty

Endocrine Features:
diabetes mellitus, type 2 (rare)

Head And Neck Face:
prominent forehead
long face
pointed chin
triangular face
large mandible

Head And Neck Nose:
prominent nose

Skin Nails Hair Nails:
hypoplastic nails

Skeletal Feet:
short metatarsals
short tarsals

Head And Neck Eyes:
hypertelorism (in some patients)
deep-set eyes (in some patients)

Growth Other:
growth retardation, postnatal

Growth Height:
short stature, disproportionate, prenatal onset

Chest Breasts:
underdeveloped breasts (rare)

Skeletal:
bone age delay

Skeletal Pelvis:
hypoplastic pelvis and sacrum

Voice:
unusual, high-pitched voice

Clinical features from OMIM:

614813

UMLS symptoms related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:


waddling gait

Drugs & Therapeutics for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Search Clinical Trials , NIH Clinical Center for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Genetic Tests for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Genetic tests related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

# Genetic test Affiliating Genes
1 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 30 POC1A

Anatomical Context for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

MalaCards organs/tissues related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

42
Bone, Eye

Publications for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Articles related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

# Title Authors Year
1
SOFT syndrome in a patient from Chile. ( 30569574 )
2019
2
SOFT Syndrome: The First Case in Iran. ( 30310776 )
2018
3
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. ( 22840363 )
2012

Variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

76
# Symbol AA change Variation ID SNP ID
1 POC1A p.Leu171Pro VAR_068884 rs397514488

ClinVar genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POC1A NM_015426.4(POC1A): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs397514487 GRCh37 Chromosome 3, 52183866: 52183866
2 POC1A NM_015426.4(POC1A): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic rs397514487 GRCh38 Chromosome 3, 52149850: 52149850
3 POC1A NM_001161581.1(POC1A): c.398T> C (p.Leu133Pro) single nucleotide variant Pathogenic rs397514488 GRCh37 Chromosome 3, 52181055: 52181055
4 POC1A NM_001161581.1(POC1A): c.398T> C (p.Leu133Pro) single nucleotide variant Pathogenic rs397514488 GRCh38 Chromosome 3, 52147039: 52147039
5 POC1A NM_015426.4(POC1A): c.836T> G (p.Phe279Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 52159175: 52159175
6 POC1A NM_015426.4(POC1A): c.836T> G (p.Phe279Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 52125159: 52125159
7 POC1A NM_015426.4(POC1A): c.64G> T (p.Val22Phe) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 52151055: 52151055
8 POC1A NM_015426.4(POC1A): c.64G> T (p.Val22Phe) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 52185071: 52185071

Expression for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Search GEO for disease gene expression data for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis.

Pathways for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

GO Terms for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Sources for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

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