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Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome(SOFT)

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
Synonyms: Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis; SOFT SYNDROME
SNOMED CT: SOFT syndrome (773625007); Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (773625007); SOFT (short stature, onychodysplasia, facial dysmorphism, hypotrichosis) syndrome (773625007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): POC1A (3p21.2)
 
Monarch Initiative: MONDO:0013894
OMIM®: 614813
Orphanet: ORPHA314394

Definition

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). [from OMIM]

Clinical features

From HPO
Oligospermia
MedGen UID:
18162
Concept ID:
C0028960
Disease or Syndrome
Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen.
Clitoral hypoplasia
MedGen UID:
336198
Concept ID:
C1844527
Finding
Developmental hypoplasia of the clitoris.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Small hand
MedGen UID:
108279
Concept ID:
C0575802
Finding
Disproportionately small hand.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short distal phalanx of finger
MedGen UID:
326590
Concept ID:
C1839829
Finding
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Short foot
MedGen UID:
376415
Concept ID:
C1848673
Finding
A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective).
Rhizomelia
MedGen UID:
357122
Concept ID:
C1866730
Congenital Abnormality
Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).
Clinodactyly
MedGen UID:
1644094
Concept ID:
C4551485
Congenital Abnormality
An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Small for gestational age
MedGen UID:
65920
Concept ID:
C0235991
Finding
Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Posteriorly rotated ears
MedGen UID:
96566
Concept ID:
C0431478
Congenital Abnormality
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Waddling gait
MedGen UID:
66667
Concept ID:
C0231712
Finding
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
High pitched voice
MedGen UID:
66836
Concept ID:
C0241703
Finding
An abnormal increase in the pitch (frequency) of the voice.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Cone-shaped epiphysis
MedGen UID:
351282
Concept ID:
C1865037
Finding
Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery.
Hypoplastic sacrum
MedGen UID:
370356
Concept ID:
C1970816
Finding
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Hypoplastic pelvis
MedGen UID:
760700
Concept ID:
C3536734
Anatomical Abnormality
Underdevelopment of the bony pelvis.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Prominent nose
MedGen UID:
98423
Concept ID:
C0426415
Finding
Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip.
Broad nasal tip
MedGen UID:
98424
Concept ID:
C0426429
Finding
Increase in width of the nasal tip.
Triangular face
MedGen UID:
324383
Concept ID:
C1835884
Finding
Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Long face
MedGen UID:
324419
Concept ID:
C1836047
Finding
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Pointed chin
MedGen UID:
336193
Concept ID:
C1844505
Finding
A marked tapering of the lower face to the chin.
Low hanging columella
MedGen UID:
344656
Concept ID:
C1856119
Finding
Columella extending inferior to the level of the nasal base, when viewed from the side.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Small nail
MedGen UID:
537942
Concept ID:
C0263523
Finding
A nail that is diminished in length and width, i.e., underdeveloped nail.
Nail dysplasia
MedGen UID:
331737
Concept ID:
C1834405
Congenital Abnormality
The presence of developmental dysplasia of the nail.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.
Breast hypoplasia
MedGen UID:
75594
Concept ID:
C0266013
Congenital Abnormality
Underdevelopment of the breast.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Deeply set eye
MedGen UID:
473112
Concept ID:
C0423224
Finding
An eye that is more deeply recessed into the plane of the face than is typical.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Follow this link to review classifications for Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome in Orphanet.

Professional guidelines

PubMed

Butler MG, Miller JL, Forster JL
Curr Pediatr Rev 2019;15(4):207-244. doi: 10.2174/1573396315666190716120925. PMID: 31333129Free PMC Article
Oliveira CB, Maher CG, Pinto RZ, Traeger AC, Lin CC, Chenot JF, van Tulder M, Koes BW
Eur Spine J 2018 Nov;27(11):2791-2803. Epub 2018 Jul 3 doi: 10.1007/s00586-018-5673-2. PMID: 29971708
Schiffman E, Ohrbach R, Truelove E, Look J, Anderson G, Goulet JP, List T, Svensson P, Gonzalez Y, Lobbezoo F, Michelotti A, Brooks SL, Ceusters W, Drangsholt M, Ettlin D, Gaul C, Goldberg LJ, Haythornthwaite JA, Hollender L, Jensen R, John MT, De Laat A, de Leeuw R, Maixner W, van der Meulen M, Murray GM, Nixdorf DR, Palla S, Petersson A, Pionchon P, Smith B, Visscher CM, Zakrzewska J, Dworkin SF; International RDC/TMD Consortium Network, International association for Dental Research; Orofacial Pain Special Interest Group, International Association for the Study of Pain
J Oral Facial Pain Headache 2014 Winter;28(1):6-27. doi: 10.11607/jop.1151. PMID: 24482784Free PMC Article

Recent clinical studies

Etiology

Jara LJ, Vera-Lastra O, Mahroum N, Pineda C, Shoenfeld Y
Clin Rheumatol 2022 May;41(5):1603-1609. Epub 2022 Apr 5 doi: 10.1007/s10067-022-06149-4. PMID: 35378658Free PMC Article
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N
J Genet Genomics 2021 May 20;48(5):396-402. Epub 2021 Mar 22 doi: 10.1016/j.jgg.2021.02.008. PMID: 34006472
Pereira AFJR, Coelho TOA
An Bras Dermatol 2020 May-Jun;95(3):271-277. Epub 2020 Mar 25 doi: 10.1016/j.abd.2020.02.001. PMID: 32317131Free PMC Article
Fox RS, Ancoli-Israel S, Roesch SC, Merz EL, Mills SD, Wells KJ, Sadler GR, Malcarne VL
Support Care Cancer 2020 Feb;28(2):845-855. Epub 2019 Jun 3 doi: 10.1007/s00520-019-04834-w. PMID: 31161437Free PMC Article
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Jara LJ, Vera-Lastra O, Mahroum N, Pineda C, Shoenfeld Y
Clin Rheumatol 2022 May;41(5):1603-1609. Epub 2022 Apr 5 doi: 10.1007/s10067-022-06149-4. PMID: 35378658Free PMC Article
Fan X, Zhao S, Yu C, Wu D, Yan Z, Fan L, Song Y, Wang Y, Li C, Ming Y, Gui B, Niu Y, Li X, Yang X, Luo S, Zhang Q, Zhao X, Pan H, Li M, Xia W, Qiu G, Liu P, Zhang S, Zhang J, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Lupski JR, Posey JE, Chen S, Gong C, Wu N
J Genet Genomics 2021 May 20;48(5):396-402. Epub 2021 Mar 22 doi: 10.1016/j.jgg.2021.02.008. PMID: 34006472
Wennig R, Eyer F, Schaper A, Zilker T, Andresen-Streichert H
Dtsch Arztebl Int 2020 Oct 16;117(42):701-708. doi: 10.3238/arztebl.2020.0701. PMID: 33559585Free PMC Article
van Vugt VA, van der Wouden JC, Essery R, Yardley L, Twisk JWR, van der Horst HE, Maarsingh OR
BMJ 2019 Nov 5;367:l5922. doi: 10.1136/bmj.l5922. PMID: 31690561Free PMC Article
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Therapy

Cosci F, Chouinard G
Psychother Psychosom 2020;89(5):283-306. Epub 2020 Apr 7 doi: 10.1159/000506868. PMID: 32259826
Huisstede BM, Hoogvliet P, Franke TP, Randsdorp MS, Koes BW
Arch Phys Med Rehabil 2018 Aug;99(8):1623-1634.e23. Epub 2017 Sep 20 doi: 10.1016/j.apmr.2017.08.482. PMID: 28942118
Richards JR, Gordon BK, Danielson AR, Moulin AK
Pharmacotherapy 2017 Jun;37(6):725-734. Epub 2017 May 12 doi: 10.1002/phar.1931. PMID: 28370228
Smart KM, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
van der Heijden RA, Lankhorst NE, van Linschoten R, Bierma-Zeinstra SM, van Middelkoop M
Cochrane Database Syst Rev 2015 Jan 20;1:CD010387. doi: 10.1002/14651858.CD010387.pub2. PMID: 25603546

Prognosis

de Andrade KC, Khincha PP, Hatton JN, Frone MN, Wegman-Ostrosky T, Mai PL, Best AF, Savage SA
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Chung EYM, Palmer SC, Natale P, Krishnan A, Cooper TE, Saglimbene VM, Ruospo M, Au E, Jayanti S, Liang A, Jie Deng DJ, Chui J, Higgins GY, Tong A, Wong G, Teixeira-Pinto A, Hodson EM, Craig JC, Strippoli GFM
Am J Kidney Dis 2021 Dec;78(6):804-815. Epub 2021 Aug 5 doi: 10.1053/j.ajkd.2021.07.003. PMID: 34364906Free PMC Article
Wennig R, Eyer F, Schaper A, Zilker T, Andresen-Streichert H
Dtsch Arztebl Int 2020 Oct 16;117(42):701-708. doi: 10.3238/arztebl.2020.0701. PMID: 33559585Free PMC Article
Fabre A, Martinez-Vinson C, Goulet O, Badens C
Orphanet J Rare Dis 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. PMID: 23302111Free PMC Article
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Clinical prediction guides

Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
Fox RS, Ancoli-Israel S, Roesch SC, Merz EL, Mills SD, Wells KJ, Sadler GR, Malcarne VL
Support Care Cancer 2020 Feb;28(2):845-855. Epub 2019 Jun 3 doi: 10.1007/s00520-019-04834-w. PMID: 31161437Free PMC Article
van Vugt VA, van der Wouden JC, Essery R, Yardley L, Twisk JWR, van der Horst HE, Maarsingh OR
BMJ 2019 Nov 5;367:l5922. doi: 10.1136/bmj.l5922. PMID: 31690561Free PMC Article
Kattah JC
Stroke Vasc Neurol 2018 Dec;3(4):190-196. Epub 2018 Jun 23 doi: 10.1136/svn-2018-000160. PMID: 30637123Free PMC Article
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA
Eur J Hum Genet 2018 Jan;26(1):64-74. Epub 2017 Nov 27 doi: 10.1038/s41431-017-0038-6. PMID: 29180823Free PMC Article

Recent systematic reviews

Tan HL, Smith JG, Hoffmann J, Renton T
Cephalalgia 2022 Feb;42(2):128-161. Epub 2021 Aug 18 doi: 10.1177/03331024211036152. PMID: 34404247Free PMC Article
Lew J, Kim J, Nair P
J Man Manip Ther 2021 Jun;29(3):136-146. Epub 2020 Sep 22 doi: 10.1080/10669817.2020.1822618. PMID: 32962567Free PMC Article
Saltychev M, Dutton RA, Laimi K, Beaupré GS, Virolainen P, Fredericson M
J Rehabil Med 2018 May 8;50(5):393-401. doi: 10.2340/16501977-2295. PMID: 29392329
Smart KM, Wand BM, O'Connell NE
Cochrane Database Syst Rev 2016 Feb 24;2(2):CD010853. doi: 10.1002/14651858.CD010853.pub2. PMID: 26905470Free PMC Article
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030

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