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Microcephaly, corpus callosum dysgenesis, and cleft lip/palate

MedGen UID:
330448
Concept ID:
C1832369
Disease or Syndrome
Synonyms: Corpus callosum dysgenesis, microcephaly, infantile spasm, cleft lip-palate, exophthalmos and psychomotor retardation; Microcephaly, corpus callosum dysgenesis and cleft lip-palate; Microcephaly, facial clefting, and preaxial polydactyly
 
Monarch Initiative: MONDO:0011077
OMIM®: 601420

Clinical features

From HPO
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
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.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.

Professional guidelines

PubMed

Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P
Prenat Diagn 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. PMID: 15712337

Recent clinical studies

Etiology

Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS
Eur J Med Genet 2018 May;61(5):257-261. Epub 2017 Dec 24 doi: 10.1016/j.ejmg.2017.12.011. PMID: 29278735
Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D
Am J Med Genet A 2014 Sep;164A(9):2356-9. Epub 2014 May 28 doi: 10.1002/ajmg.a.36621. PMID: 24888332
van der Wal KG, Wiebe Mulder J
Int J Oral Maxillofac Surg 1993 Feb;22(1):39-41. doi: 10.1016/s0901-5027(05)80354-6. PMID: 8459121

Diagnosis

Jacquinet A, Brown L, Sawkins J, Liu P, Pugash D, Van Allen MI, Patel MS
Eur J Med Genet 2018 May;61(5):257-261. Epub 2017 Dec 24 doi: 10.1016/j.ejmg.2017.12.011. PMID: 29278735
El-Bassyouni HT, Abdel Salam GH, Saleem SN, Kayed HF, Shehab MI, Eid MM, Zaki ME, Zaki MS
Genet Couns 2014;25(4):369-81. PMID: 25804014
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
Couvreur-Lionnais S, Rousseau T, Laurent N, Thauvin-Robinet C, Senet-Lacombe E, Delezoïde AL, Mugneret F, Durand C, Faivre L, Sagot P
Prenat Diagn 2005 Feb;25(2):172-5. doi: 10.1002/pd.943. PMID: 15712337
Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C
Clin Genet 1992 Dec;42(6):281-7. doi: 10.1111/j.1399-0004.1992.tb03257.x. PMID: 1493641

Therapy

Kourti M, Pavlou E, Rousso I, Economou I, Athanassiadou F
J Child Neurol 2008 Jan;23(1):118-20. Epub 2007 Dec 13 doi: 10.1177/0883073807308708. PMID: 18079312

Prognosis

Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
Durmuş Aydoğdu S, Yakut A, Oner U, Akşit MA, Tel N
Turk J Pediatr 1994 Apr-Jun;36(2):157-62. PMID: 8016918
van der Wal KG, Wiebe Mulder J
Int J Oral Maxillofac Surg 1993 Feb;22(1):39-41. doi: 10.1016/s0901-5027(05)80354-6. PMID: 8459121
DEMYER W, ZEMAN W, PALMER CG
Pediatrics 1964 Aug;34:256-63. PMID: 14211086

Clinical prediction guides

Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D
Am J Med Genet A 2014 Sep;164A(9):2356-9. Epub 2014 May 28 doi: 10.1002/ajmg.a.36621. PMID: 24888332
Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M
Am J Med Genet A 2009 May;149A(5):894-905. doi: 10.1002/ajmg.a.32814. PMID: 19363806
Hall RK
Orphanet J Rare Dis 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. PMID: 16722608Free PMC Article
Tachdjian G, Fondacci C, Tapia S, Huten Y, Blot P, Nessmann C
Clin Genet 1992 Dec;42(6):281-7. doi: 10.1111/j.1399-0004.1992.tb03257.x. PMID: 1493641
DEMYER W, ZEMAN W, PALMER CG
Pediatrics 1964 Aug;34:256-63. PMID: 14211086

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