MCID: SHR059
MIFTS: 33

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare 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 57 75 29 13 6
Soft Syndrome 57 59 75
Soft 57 75
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome 73
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome 59
Stature, Short, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 40

Characteristics:

Orphanet epidemiological data:

59
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

32
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 macrocephaly and hypertelorism

OMIM : 57 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 971)
# Related Disease Score Top Affiliating Genes
1 alveolar soft part sarcoma 12.5
2 soft tissue sarcoma 12.4
3 cleft soft palate 12.3
4 soft palate cancer 12.2
5 melanoma of soft tissue 12.1
6 necrotizing soft tissue infection 12.1
7 cervical alveolar soft part sarcoma 12.1
8 vulvar alveolar soft part sarcoma 12.0
9 malignant giant cell tumor of soft parts 12.0
10 soft tissue peripheral neuroepithelioma 12.0
11 extramedullary soft tissue plasmacytoma 11.9
12 soft tissue sarcoma childhood 11.8
13 clear cell sarcoma 11.8
14 sarcoma 11.7
15 connective tissue benign neoplasm 11.5
16 extraskeletal chondroma 11.5
17 kaposi sarcoma 11.5
18 epithelioid sarcoma 11.4
19 sarcoma, synovial 11.4
20 undifferentiated pleomorphic sarcoma 11.4
21 fibrosarcoma 11.4
22 mesomelia-synostoses syndrome 11.3
23 rhabdoid cancer 11.3
24 klippel-trenaunay-weber syndrome 11.3
25 dermatofibrosarcoma protuberans 11.3
26 hemangiopericytoma, malignant 11.3
27 myxoid liposarcoma 11.3
28 cleft palate, isolated 11.3
29 perineurioma 11.3
30 extraneural perineurioma 11.3
31 rhabdomyosarcoma 2 11.3
32 rhabdomyosarcoma 11.2
33 leiomyosarcoma 11.2
34 chondrosarcoma 11.2
35 chordoma 11.2
36 ewing sarcoma 11.2
37 liposarcoma 11.1
38 chondrosarcoma, extraskeletal myxoid 11.1
39 kimura disease 11.1
40 necrotizing fasciitis 11.1
41 infantile myofibromatosis 11.1
42 hemifacial atrophy, progressive 11.1
43 li-fraumeni syndrome 11.1
44 hemifacial microsomia 11.1
45 desmoplastic small round cell tumor 11.1
46 gastrointestinal stromal tumor 11.0
47 muscle cancer 11.0
48 calcinosis 11.0
49 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 11.0
50 fibromatosis 11.0

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...

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly
short metacarpals
cone-shaped epiphyses
small hands
more
GenitourinaryInternal GenitaliaMale:
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

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

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

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 29 POC1A

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

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

41
Bone, Eye

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

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

# Title Authors Year
1
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:

75
# 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/Likely pathogenic rs397514487 GRCh37 Chromosome 3, 52183866: 52183866
2 POC1A NM_015426.4(POC1A): c.241C> T (p.Arg81Ter) single nucleotide variant Pathogenic/Likely 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

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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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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31 HMDB
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33 ICD10
34 ICD10 via Orphanet
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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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