SOFT
MCID: SHR059
MIFTS: 47
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Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (SOFT)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:
Characteristics:Inheritance:
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:
Autosomal recessive 57
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome:
Autosomal recessive 58
Prevelance:
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome:
<1/1000000 (Worldwide) 58
Age Of Onset:
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome:
Infancy,Neonatal 58
Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases
ICD10:
32
Orphanet: 58
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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) (Updated 08-Dec-2022) MalaCards based summary: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis, also known as soft syndrome, is related to soft tissue sarcoma and alveolar soft part 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, skin and breast, and related phenotypes are diabetes mellitus and developmental regression UniProtKB/Swiss-Prot: 73 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. Orphanet: 58 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated. Wikipedia: 75 SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial... more... |
Human phenotypes related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:30 (show all 47)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:614813 (Updated 08-Dec-2022)UMLS symptoms related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:waddling gait |
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Organs/tissues related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:
MalaCards :
Bone,
Skin,
Breast,
Lymph Node,
Eye,
Bone Marrow,
Smooth Muscle
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Articles related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:(show top 50) (show all 30010)
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ClinVar genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:5 (show all 15)
UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:73
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for disease gene expression data for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis.
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