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Holoprosencephaly-craniosynostosis syndrome

MedGen UID:
330464
Concept ID:
C1832424
Disease or Syndrome
Synonyms: Camera Lituania Cohen syndrome; Genoa syndrome; Holoprosencephaly craniosynostosis; HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS; Semilobar holoprosencephaly and primary craniosynostosis
SNOMED CT: Holoprosencephaly craniosynostosis syndrome (715434005); Camero Lituania Cohen syndrome (715434005); Genoa syndrome (715434005)
 
Monarch Initiative: MONDO:0011059
OMIM®: 601370
Orphanet: ORPHA2163

Definition

Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features. [from ORDO]

Clinical features

From HPO
Coxa valga
MedGen UID:
116080
Concept ID:
C0239137
Finding
Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).
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.
Semilobar holoprosencephaly
MedGen UID:
199694
Concept ID:
C0751617
Congenital Abnormality
A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly.
Craniosynostosis 4
MedGen UID:
322167
Concept ID:
C1833340
Disease or Syndrome
Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Congenital Abnormality
Premature closure of the coronal suture of skull.
Hypoplastic vertebral bodies
MedGen UID:
354963
Concept ID:
C1863353
Congenital Abnormality

Recent clinical studies

Etiology

Idris G, Smith C, Galland B, Taylor R, Robertson CJ, Farella M
Nutrients 2021 Dec 3;13(12) doi: 10.3390/nu13124354. PMID: 34959906Free PMC Article
Li HC, Cao GQ, Liu CZ, Tang MM, Zhang XQ
Eur Rev Med Pharmacol Sci 2019 Aug;23(3 Suppl):287-293. doi: 10.26355/eurrev_201908_18659. PMID: 31389602
Baclig MO, Reyes KG, Mapua CA, Gopez-Cervantes J, Natividad FF; St. Luke’s Liver Diseases Study Group
Mol Biol Rep 2015 Mar;42(3):673-9. Epub 2014 Nov 13 doi: 10.1007/s11033-014-3814-1. PMID: 25391769
Hunger SP, Raetz EA, Loh ML, Mullighan CG
Pediatr Blood Cancer 2011 Jun;56(6):984-93. Epub 2011 Feb 15 doi: 10.1002/pbc.22996. PMID: 21370430

Diagnosis

Idris G, Smith C, Galland B, Taylor R, Robertson CJ, Farella M
Nutrients 2021 Dec 3;13(12) doi: 10.3390/nu13124354. PMID: 34959906Free PMC Article
Baclig MO, Reyes KG, Mapua CA, Gopez-Cervantes J, Natividad FF; St. Luke’s Liver Diseases Study Group
Mol Biol Rep 2015 Mar;42(3):673-9. Epub 2014 Nov 13 doi: 10.1007/s11033-014-3814-1. PMID: 25391769
Lapunzina P, Musante G, Pedraza A, Prudent L, Gadow E
Am J Med Genet 2001 Aug 15;102(3):258-60. doi: 10.1002/ajmg.1467. PMID: 11484203
Camera G, Lituania M, Cohen MM Jr
Am J Med Genet 1993 Dec 1;47(8):1161-5. doi: 10.1002/ajmg.1320470806. PMID: 8291548
Pretorius DH, Russ PD, Rumack CM, Manco-Johnson ML
Neuroradiology 1986;28(5-6):386-97. doi: 10.1007/BF00344094. PMID: 3540704

Therapy

Li HC, Cao GQ, Liu CZ, Tang MM, Zhang XQ
Eur Rev Med Pharmacol Sci 2019 Aug;23(3 Suppl):287-293. doi: 10.26355/eurrev_201908_18659. PMID: 31389602

Prognosis

Hunger SP, Raetz EA, Loh ML, Mullighan CG
Pediatr Blood Cancer 2011 Jun;56(6):984-93. Epub 2011 Feb 15 doi: 10.1002/pbc.22996. PMID: 21370430

Clinical prediction guides

Baclig MO, Reyes KG, Mapua CA, Gopez-Cervantes J, Natividad FF; St. Luke’s Liver Diseases Study Group
Mol Biol Rep 2015 Mar;42(3):673-9. Epub 2014 Nov 13 doi: 10.1007/s11033-014-3814-1. PMID: 25391769

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