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Short stature and microcephaly with genital anomalies(SSMGA)

MedGen UID:
1684791
Concept ID:
C5231467
Disease or Syndrome
Synonyms: SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
 
Gene (location): CENPT (16q22.1)
 
Monarch Initiative: MONDO:0032875
OMIM®: 618702

Definition

Short stature and microcephaly with genital anomalies (SSMGA) is characterized by severe growth failure, with extreme short stature, microcephaly, and delayed and dissociated bone age. Global psychomotor developmental delay may be present, although the brain appears structurally normal. Pubertal delay and genital anomalies have been observed (Hung et al., 2017). [from OMIM]

Clinical features

From HPO
Phimosis
MedGen UID:
87496
Concept ID:
C0345326
Congenital Abnormality
The male foreskin cannot be fully retracted from the head of the penis.
External genital hypoplasia
MedGen UID:
344478
Concept ID:
C1855333
Finding
Underdevelopment of part or all of the external reproductive organs.
Micropenis
MedGen UID:
1633603
Concept ID:
C4551492
Congenital Abnormality
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Severe short stature
MedGen UID:
3931
Concept ID:
C0013336
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
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.
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Gastroesophageal reflux
MedGen UID:
1368658
Concept ID:
C4317146
Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
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.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Dysharmonic delayed bone age
MedGen UID:
395264
Concept ID:
C1859444
Finding
A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
Convex nasal ridge
MedGen UID:
66809
Concept ID:
C0240538
Finding
Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
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.
Narrow face
MedGen UID:
373334
Concept ID:
C1837463
Finding
Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective).
Hypoplastic fingernail
MedGen UID:
347304
Concept ID:
C1856786
Finding
Underdevelopment of a fingernail.
Delayed puberty
MedGen UID:
46203
Concept ID:
C0034012
Pathologic Function
Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty.
Delayed thelarche
MedGen UID:
1385135
Concept ID:
C4476820
Finding
Later than normal development of the breasts.
Hypermetropia
MedGen UID:
43780
Concept ID:
C0020490
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.

Recent clinical studies

Etiology

Kesici S, Ünal Ş, Kuşkonmaz B, Aytaç S, Çetin M, Gümrük F
Turk J Pediatr 2019;61(4):477-484. doi: 10.24953/turkjped.2019.04.002. PMID: 31990462
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959
Visootsak J, Rosner B, Dykens E, Schwartz C, Hahn K, White SM, Szeftel R, Graham JM
J Pediatr 2004 Dec;145(6):819-25. doi: 10.1016/j.jpeds.2004.07.041. PMID: 15580208

Diagnosis

Kesici S, Ünal Ş, Kuşkonmaz B, Aytaç S, Çetin M, Gümrük F
Turk J Pediatr 2019;61(4):477-484. doi: 10.24953/turkjped.2019.04.002. PMID: 31990462
Cammarata-Scalisi F, Briceño Y, Cegarra E, Montilla D
Bol Med Hosp Infant Mex 2019;76(2):100-103. doi: 10.24875/BMHIM.18000108. PMID: 30907385
de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J, Lopez-Martin V, Tendero A, Esquiroz JL, Pascual-Pascual SI
Brain Dev 1998 Jan;20(1):36-43. doi: 10.1016/s0387-7604(97)00097-1. PMID: 9533559

Therapy

de Munnik SA, Otten BJ, Schoots J, Bicknell LS, Aftimos S, Al-Aama JY, van Bever Y, Bober MB, Borm GF, Clayton-Smith J, Deal CL, Edrees AY, Feingold M, Fryer A, van Hagen JM, Hennekam RC, Jansweijer MC, Johnson D, Kant SG, Opitz JM, Ramadevi AR, Reardon W, Ross A, Sarda P, Schrander-Stumpel CT, Sluiter AE, Temple IK, Terhal PA, Toutain A, Wise CA, Wright M, Skidmore DL, Samuels ME, Hoefsloot LH, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Am J Med Genet A 2012 Nov;158A(11):2733-42. Epub 2012 Sep 28 doi: 10.1002/ajmg.a.35681. PMID: 23023959

Prognosis

Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM
Am J Med Genet A 2020 Mar;182(3):513-520. Epub 2019 Dec 27 doi: 10.1002/ajmg.a.61450. PMID: 31880405Free PMC Article
Kesici S, Ünal Ş, Kuşkonmaz B, Aytaç S, Çetin M, Gümrük F
Turk J Pediatr 2019;61(4):477-484. doi: 10.24953/turkjped.2019.04.002. PMID: 31990462
Kranz C, Basinger AA, Güçsavaş-Calikoğlu M, Sun L, Powell CM, Henderson FW, Aylsworth AS, Freeze HH
Am J Med Genet A 2007 Jun 15;143A(12):1371-8. doi: 10.1002/ajmg.a.31791. PMID: 17506107
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
Rakheja D, Wilson GN, Rogers BB
Pediatr Dev Pathol 2003 May-Jun;6(3):270-7. Epub 2003 Apr 30 doi: 10.1007/s10024-002-1116-4. PMID: 12717589

Clinical prediction guides

Burnside RD, Molinari S, Botti C, Brooks SS, Chung WK, Mehta L, Schwartz S, Papenhausen P
Am J Med Genet A 2018 Sep;176(9):1956-1963. Epub 2018 Aug 8 doi: 10.1002/ajmg.a.40355. PMID: 30088856
Huyhn K, Renfree MB, Graves JA, Pask AJ
BMC Dev Biol 2011 Jun 14;11:39. doi: 10.1186/1471-213X-11-39. PMID: 21672208Free PMC Article
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G
Eur J Hum Genet 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498. PMID: 10909852
Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J, Lopez-Martin V, Tendero A, Esquiroz JL, Pascual-Pascual SI
Brain Dev 1998 Jan;20(1):36-43. doi: 10.1016/s0387-7604(97)00097-1. PMID: 9533559

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