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General Information (adopted from Orphanet):

Synonyms, Signs:	HDCPH1 Braddock-Jones-Superneau syndrome
Number of Symptoms	15
OrphanetNr:	1538
OMIM Id:	123155
ICD-10:	Q03.1 Q75.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	4 cases [Orphanet]
Inheritance:	Autosomal dominant [Orphanet]
Age of onset:	Infancy [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Familial scaphocephaly syndrome
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease
Genetic syndrome with a Dandy-Walker malformation as major feature
-Rare genetic disease
Syndrome with a Dandy-Walker malformation as major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000277)	Abnormality of the mandible	Very frequent [Orphanet]	394 / 7739
2	(HPO:0001363)	Craniosynostosis	Very frequent [Orphanet]	132 / 7739
3	(HPO:0000268)	Dolichocephaly	Very frequent [Orphanet]	144 / 7739
4	(HPO:0004442)	Sagittal craniosynostosis		16 / 7739
5	(HPO:0007291)	Posterior fossa cyst		10 / 7739
6	(HPO:0002007)	Frontal bossing	Very frequent [Orphanet]	366 / 7739
7	(HPO:0001305)	Dandy-Walker malformation	Very frequent [Orphanet]	79 / 7739
8	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
9	(HPO:0000486)	Strabismus	Frequent [Orphanet]	576 / 7739
10	(HPO:0012795)	Abnormality of the optic disc	Very frequent [Orphanet]	187 / 7739
11	(HPO:0001320)	Cerebellar vermis hypoplasia		57 / 7739
12	(HPO:0002334)	Abnormality of the cerebellar vermis	Very frequent [Orphanet]	137 / 7739
13	(HPO:0000238)	Hydrocephalus	Very frequent [Orphanet]	278 / 7739
14	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
15	(HPO:0012758)	Neurodevelopmental delay	Frequent [Orphanet]	949 / 7739

Additional Information:

Clinical Description OMIM

Braddock et al. (1993) reported 4 cases of sagittal craniosynostosis and the Dandy-Walker malformation (posterior fossa cyst, hypoplasia of the cerebellar vermis and often hydrocephalus) and suggested that they represented an autosomal dominant multiple malformation syndrome distinct from ... Braddock et al. (1993) reported 4 cases of sagittal craniosynostosis and the Dandy-Walker malformation (posterior fossa cyst, hypoplasia of the cerebellar vermis and often hydrocephalus) and suggested that they represented an autosomal dominant multiple malformation syndrome distinct from other disorders in which either craniosynostosis or the Dandy-Walker malformation is present. A mother and her 2 sons were affected. The 2 sons had developmental delay, and the mother had had difficulties in school. A fourth unrelated boy was similarly affected. (Cohen (1993) referred to this as Jones syndrome. Not unexpectedly, at least one other disorder had been referred to as Jones syndrome (135550).) Basel-Vanagaite et al. (2010) reported a nonconsanguineous family of Moroccan-Jewish origin with variable expression of ventriculomegaly or hydrocephalus and posterior fossa abnormalities. Two brothers had ventriculomegaly detected on brain imaging at ages 16 and 8 years, respectively. One also had a midline cyst in the trigeminal cistern and compressing the tectum, as well as a megacisterna magna with minimal vermian hypoplasia. He was asymptomatic and had normal neurologic development. The other boy had enlargement of all the ventricles and colpocephaly, as well as an enlarged posterior fossa with megacisterna magna, but no cyst. The massa intermedia was large and malformed, and he had partial absence of the septum pellucidum. He had recurrent headaches and underwent ventriculoperitoneal shunting. Otherwise he had normal development. The healthy mother had a history of 2 pregnancy terminations due to severe fetal hydrocephalus developing late in pregnancy; both were males. Her brain MRI showed enlargement of the lateral ventricles with mild colpocephaly, a midline cyst, an enlarged massa intermedia, and an enlarged posterior fossa with a megacisterna magna and minimal vermian hypoplasia. She had no neurologic abnormalities. The maternal grandmother had ventriculomegaly and recurrent headaches. She also had dysmetria of the upper limbs, abnormal tandem gait, and memory loss. Brain MRI of 2 clinically unaffected sisters of the probands showed mildly enlarged posterior fossa without ventricular dilatation. Basel-Vanagaite et al. (2010) noted that the Dandy-Walker malformation and megacisterna magna seem to represent a continuum of developmental anomalies of the posterior fossa, and that abnormalities of the posterior fossa predispose to the development of hydrocephalus.

Craniosynostosis - Dandy-Walker malformation - hydrocephalus

General Information (adopted from Orphanet):

Prevalence, inheritance and age of onset:

Disease classification (adopted from Orphanet):

Symptom Information: Sort by abundance

Associated genes:

ClinVar (via SNiPA)

Additional Information:

Symptoms & Signs

	Field	Query
	Disease
	Symptom