Holoprosencephaly-craniosynostosis syndrome

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.



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Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.2%)		 21274346
(3005673)
 Genoa syndrome and central diabetes insipidus: a case report.
Hachamdioglu B, klar Z, Savas Erdeve , Berberoglu M, Deda G, Tras ST, Fitoz S, Ocal G.
J Clin Res Pediatr Endocrinol. 2010;2(2):89-91.
Hypothyroidism Small hand
GH1
Central Diabetes Insipidus Cleft Palate Craniosynostosis Holoprosencephaly Homo sapiens Infant Male Nose Syndrome
2
(39.0%)		 11484203
 Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?
Lapunzina P, Musante G, Pedraza A, Prudent L, Gadow E.
Am J Med Genet. 2001;102(3):258-60.
Dandy-Walker malformation
Congenital Hand Deformities Craniosynostosis Differential Diagnosis Females Holoprosencephaly Homo sapiens Infant, Newborn Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000286 Epicanthus Very frequent (99-80%)
HP:0000324 Facial asymmetry Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000582 Upslanted palpebral fissure Very frequent (99-80%)
HP:0000601 Hypotelorism Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001357 Plagiocephaly Very frequent (99-80%)
HP:0001360 Holoprosencephaly Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0002673 Coxa valga Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004209 Clinodactyly of the 5th finger Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0007703 Abnormality of retinal pigmentation Very frequent (99-80%)
HP:0008479 Hypoplastic vertebral bodies Very frequent (99-80%)
HP:0009882 Short distal phalanx of finger Very frequent (99-80%)
HP:0012745 Short palpebral fissure Very frequent (99-80%)
HP:0100543 Cognitive impairment Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 2

HPO ID Term # of case reports
HP:0010579 Cone-shaped epiphysis 1
HP:0200055 Small hand 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID