Craniofacial dyssynostosis

Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.



Input patient's signs and symptoms


Narrow down the case reports



Total: 5 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(40.2%)		 19396832
 Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype?
Hing AV, Click ES, Holder U, Seto ML, Vessey K, Gruss J, Hopper R, Cunningham ML.
Am J Med Genet A. 2009;149A(5):1024-32.
Frontal bossing
Craniosynostosis Face Females Homo sapiens Male Phenotype Syndrome
2
(39.0%)		 15551327
 Craniofacial dyssynostosis: description of the first four Spanish cases and review.
Bermejo E, Felix V, Lapunzina P, Galan E, Soler V, Delicado A, Pantoja A, Marquez MD, Garcia M, Mora E, Cuevas L, Ureta A, Lopez-Pajares I, Martinez-Frias ML.
Am J Med Genet A. 2005;132A(1):41-8.
Flat occiput
Child, Preschool Craniofacial Dysostosis Craniosynostosis Homo sapiens Male Spain Syndrome
3
(4.0%)		 15326632
 Craniofacial dyssynostosis: case report and review.
Grosso S, Vivarelli R, Muraca MC, Berardi R, Marconcini S, Morgese G, Balestri P.
Am J Med Genet A. 2004;129A(3):300-2.
Hydronephrosis
Brain Child Craniofacial Dysostosis Homo sapiens Intellectual Disability Male Ocular Motility Disorders Phenotype Urogenital Abnormalities
3
(4.0%)		 9738860
 Craniofacial dyssynostosis: a further case report.
Morton JE.
Am J Med Genet. 1998;79(1):8-11.
Severe global developmental delay
Child Craniofacial Dysostosis Homo sapiens Male
3
(4.0%)		 9738859
 Craniofacial dyssynostosis with cryptorchidism and normal stature.
Al-Torki NA, Sabry MA, Al-Tawari A, Al-Kandari NH, Al-Awadi SA.
Am J Med Genet. 1998;79(1):5-7.
Cryptorchidism
Body Constitution Brain Child, Preschool Craniofacial Dysostosis Cryptorchidism Females Homo sapiens Male
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000256 Macrocephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0011344 Severe global developmental delay Very frequent (99-80%)
HP:0000194 Open mouth Frequent (79-30%)
HP:0000238 Hydrocephalus Frequent (79-30%)
HP:0000322 Short philtrum Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000402 Stenosis of the external auditory canal Frequent (79-30%)
HP:0000430 Underdeveloped nasal alae Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0009891 Underdeveloped supraorbital ridges Frequent (79-30%)
HP:0000163 Abnormal oral cavity morphology Occasional (29-5%)
HP:0000286 Epicanthus Occasional (29-5%)
HP:0000324 Facial asymmetry Occasional (29-5%)
HP:0000470 Short neck Occasional (29-5%)
HP:0000639 Nystagmus Occasional (29-5%)
HP:0000960 Sacral dimple Occasional (29-5%)
HP:0001052 Nevus flammeus Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0002079 Hypoplasia of the corpus callosum Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0004322 Short stature 2


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID