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Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1(SSFSC1)

MedGen UID:
1778119
Concept ID:
C5542952
Disease or Syndrome
Synonyms: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1; SSFSC1
 
Gene (location): BMP2 (20p12.3)
 
Monarch Initiative: MONDO:0100297
OMIM®: 617877

Clinical features

From HPO
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Sandal gap
MedGen UID:
374376
Concept ID:
C1840069
Finding
A widely spaced gap between the first toe (the great toe) and the second toe.
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Short 5th metacarpal
MedGen UID:
348858
Concept ID:
C1861388
Finding
Short fifth metacarpal bone.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Paroxysmal supraventricular tachycardia
MedGen UID:
18314
Concept ID:
C0030590
Disease or Syndrome
An episodic form of supraventricular tachycardia with abrupt onset and termination.
Transposition of the great arteries
MedGen UID:
21245
Concept ID:
C0040761
Congenital Abnormality
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Perimembranous ventricular septal defect
MedGen UID:
87490
Concept ID:
C0344925
Congenital Abnormality
A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs.
Pulmonic stenosis
MedGen UID:
408291
Concept ID:
C1956257
Disease or Syndrome
A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis), below the pulmonary valve (infundibular stenosis), or above the pulmonary valve (supravalvar stenosis).
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
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).
Spina bifida occulta
MedGen UID:
36380
Concept ID:
C0080174
Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Obstructive sleep apnea syndrome
MedGen UID:
101045
Concept ID:
C0520679
Disease or Syndrome
Obstructive sleep apnea is a common, chronic, complex disease associated with serious cardiovascular and neuropsychologic sequelae and with substantial social and economic costs (Palmer et al., 2003).
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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.
Spondylolisthesis
MedGen UID:
52470
Concept ID:
C0038016
Disease or Syndrome
Spondylolisthesis is defined as forward slipping of a vertebral body on the one below it. Spondylolysis is defined as a defect in the pars interarticularis without vertebral slipping (summary by Wiltse et al., 1975).
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Prominent sternum
MedGen UID:
337578
Concept ID:
C1846433
Finding
Infantile muscular hypotonia
MedGen UID:
395993
Concept ID:
C1860834
Finding
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Pectus excavatum
MedGen UID:
781174
Concept ID:
C2051831
Finding
A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance.
Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Anterior open-bite malocclusion
MedGen UID:
120566
Concept ID:
C0266060
Finding
Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Narrow forehead
MedGen UID:
326956
Concept ID:
C1839758
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective).
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Broad forehead
MedGen UID:
338610
Concept ID:
C1849089
Finding
Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Everted lower lip vermilion
MedGen UID:
344003
Concept ID:
C1853246
Finding
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
Short nose
MedGen UID:
343052
Concept ID:
C1854114
Finding
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
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.
Thin upper lip vermilion
MedGen UID:
355352
Concept ID:
C1865017
Finding
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Toenail dysplasia
MedGen UID:
478253
Concept ID:
C3276623
Finding
An abnormality of the development of the toenails.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Michelena HI, Della Corte A, Evangelista A, Maleszewski JJ, Edwards WD, Roman MJ, Devereux RB, Fernández B, Asch FM, Barker AJ, Sierra-Galan LM, De Kerchove L, Fernandes SM, Fedak PWM, Girdauskas E, Delgado V, Abbara S, Lansac E, Prakash SK, Bissell MM, Popescu BA, Hope MD, Sitges M, Thourani VH, Pibarot P, Chandrasekaran K, Lancellotti P, Borger MA, Forrest JK, Webb J, Milewicz DM, Makkar R, Leon MB, Sanders SP, Markl M, Ferrari VA, Roberts WC, Song JK, Blanke P, White CS, Siu S, Svensson LG, Braverman AC, Bavaria J, Sundt TM, El Khoury G, De Paulis R, Enriquez-Sarano M, Bax JJ, Otto CM, Schäfers HJ; Endorsed by the Heart Valve Society (HVS), European Association of Cardiovascular Imaging (EACVI), Society of Thoracic Surgeons (STS), American Association for Thoracic Surgery (AATS), Society for Cardiovascular Magnetic Resonance (SCMR), Society of Cardiovascular Computed Tomography (SCCT), North American Society for Cardiovascular Imaging (NASCI) and the International Bicuspid Aortic Valve Consortium (BAVCon)
Eur J Cardiothorac Surg 2021 Sep 11;60(3):448-476. doi: 10.1093/ejcts/ezab038. PMID: 34293102
Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C
Int J Cardiol 2020 Nov 15;319:106-114. Epub 2020 Jun 16 doi: 10.1016/j.ijcard.2020.06.005. PMID: 32561223
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699

Recent clinical studies

Etiology

Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H
Front Endocrinol (Lausanne) 2022;13:820001. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.820001. PMID: 35250876Free PMC Article
Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
Sun R, Liu M, Lu L, Zheng Y, Zhang P
Cell Biochem Biophys 2015 Jul;72(3):857-60. doi: 10.1007/s12013-015-0551-6. PMID: 25638345

Diagnosis

Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H
Front Endocrinol (Lausanne) 2022;13:820001. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.820001. PMID: 35250876Free PMC Article
Zenker M, Edouard T, Blair JC, Cappa M
Arch Dis Child 2022 Dec;107(12):1073-1078. Epub 2022 Mar 4 doi: 10.1136/archdischild-2021-322858. PMID: 35246453Free PMC Article
Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S
BMC Med Genet 2020 Mar 12;21(1):50. doi: 10.1186/s12881-020-0986-5. PMID: 32164556Free PMC Article
Linglart L, Gelb BD
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):73-80. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31765. PMID: 32022400Free PMC Article

Therapy

Carson JL, Stanworth SJ, Guyatt G, Valentine S, Dennis J, Bakhtary S, Cohn CS, Dubon A, Grossman BJ, Gupta GK, Hess AS, Jacobson JL, Kaplan LJ, Lin Y, Metcalf RA, Murphy CH, Pavenski K, Prochaska MT, Raval JS, Salazar E, Saifee NH, Tobian AAR, So-Osman C, Waters J, Wood EM, Zantek ND, Pagano MB
JAMA 2023 Nov 21;330(19):1892-1902. doi: 10.1001/jama.2023.12914. PMID: 37824153
Chen M, Miao H, Liang H, Ke X, Yang H, Gong F, Wang L, Duan L, Chen S, Pan H, Zhu H
Front Endocrinol (Lausanne) 2022;13:820001. Epub 2022 Feb 16 doi: 10.3389/fendo.2022.820001. PMID: 35250876Free PMC Article
Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Lahm H, Jia M, Dreßen M, Wirth F, Puluca N, Gilsbach R, Keavney BD, Cleuziou J, Beck N, Bondareva O, Dzilic E, Burri M, König KC, Ziegelmüller JA, Abou-Ajram C, Neb I, Zhang Z, Doppler SA, Mastantuono E, Lichtner P, Eckstein G, Hörer J, Ewert P, Priest JR, Hein L, Lange R, Meitinger T, Cordell HJ, Müller-Myhsok B, Krane M
J Clin Invest 2021 Jan 19;131(2) doi: 10.1172/JCI141837. PMID: 33201861Free PMC Article
Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH
Nat Rev Endocrinol 2019 Oct;15(10):601-614. Epub 2019 Jun 18 doi: 10.1038/s41574-019-0224-4. PMID: 31213699

Prognosis

Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X
J Clin Endocrinol Metab 2022 Mar 24;107(4):972-985. doi: 10.1210/clinem/dgab863. PMID: 34850017Free PMC Article
Schwartz SS, Madsen N, Laursen HB, Hirsch R, Olsen MS
Am J Cardiol 2018 Jun 15;121(12):1610-1616. Epub 2018 Mar 14 doi: 10.1016/j.amjcard.2018.02.051. PMID: 29655882
Parikh LI, Grantz KL, Iqbal SN, Huang CC, Landy HJ, Fries MH, Reddy UM
Am J Obstet Gynecol 2017 Oct;217(4):469.e1-469.e12. Epub 2017 May 31 doi: 10.1016/j.ajog.2017.05.049. PMID: 28578168Free PMC Article
Turitz AL, Friedman AM
Semin Perinatol 2014 Aug;38(5):304-8. Epub 2014 May 27 doi: 10.1053/j.semperi.2014.04.020. PMID: 25037521
Cuneo BF
Curr Opin Pediatr 2006 Oct;18(5):490-6. doi: 10.1097/01.mop.0000245348.52960.11. PMID: 16969162

Clinical prediction guides

Li X, Yao R, Chang G, Li Q, Song C, Li N, Ding Y, Li J, Chen Y, Wang Y, Huang X, Shen Y, Zhang H, Wang J, Wang X
J Clin Endocrinol Metab 2022 Mar 24;107(4):972-985. doi: 10.1210/clinem/dgab863. PMID: 34850017Free PMC Article
Karim JN, Bradburn E, Roberts N, Papageorghiou AT; ACCEPTS study
Ultrasound Obstet Gynecol 2022 Jan;59(1):11-25. doi: 10.1002/uog.23740. PMID: 34369613Free PMC Article
Malahfji M, Chamsi-Pasha MA
Methodist Debakey Cardiovasc J 2019 Apr-Jun;15(2):99-104. doi: 10.14797/mdcj-15-2-99. PMID: 31384372Free PMC Article
Cantinotti M, Valverde I, Kutty S
Int J Cardiovasc Imaging 2017 Jan;33(1):137-144. Epub 2016 Sep 27 doi: 10.1007/s10554-016-0981-2. PMID: 27677762
Brancati F, Sarkozy A, Dallapiccola B
Orphanet J Rare Dis 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. PMID: 17163996Free PMC Article

Recent systematic reviews

Van den Eynde J, Sá MPBO, Vervoort D, Roever L, Meyns B, Budts W, Gewillig M, Ruhparwar A, Zhigalov K, Weymann A
Ann Thorac Surg 2022 Mar;113(3):1036-1046. Epub 2020 Dec 27 doi: 10.1016/j.athoracsur.2020.11.040. PMID: 33378694
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Mitra S, Florez ID, Tamayo ME, Mbuagbaw L, Vanniyasingam T, Veroniki AA, Zea AM, Zhang Y, Sadeghirad B, Thabane L
JAMA 2018 Mar 27;319(12):1221-1238. doi: 10.1001/jama.2018.1896. PMID: 29584842Free PMC Article
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, Lin AE, Mauras N, Quigley CA, Rubin K, Sandberg DE, Sas TCJ, Silberbach M, Söderström-Anttila V, Stochholm K, van Alfen-van derVelden JA, Woelfle J, Backeljauw PF; International Turner Syndrome Consensus Group
Eur J Endocrinol 2017 Sep;177(3):G1-G70. doi: 10.1530/EJE-17-0430. PMID: 28705803
van der Linde D, Konings EE, Slager MA, Witsenburg M, Helbing WA, Takkenberg JJ, Roos-Hesselink JW
J Am Coll Cardiol 2011 Nov 15;58(21):2241-7. doi: 10.1016/j.jacc.2011.08.025. PMID: 22078432

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