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Dandy-Walker malformation - postaxial polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs:	pierquin syndrome dwm with postaxial polydactyly
Number of Symptoms	36
OrphanetNr:	1566
OMIM Id:	220220
ICD-10:	Q87.8
UMLs:	C1857351
MeSH:	C535771
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	2 cases [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Antenatal Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
-Rare bone disease
-Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000431)	Wide nasal bridge		290 / 7739
2	(HPO:0005280)	Depressed nasal bridge		381 / 7739
3	(HPO:0001305)	Dandy-Walker malformation	Very frequent [Orphanet]	79 / 7739
4	(HPO:0000268)	Dolichocephaly		144 / 7739
5	(HPO:0000931)	Thinning and bulging of the posterior fossa bones		3 / 7739
6	(HPO:0000256)	Macrocephaly		298 / 7739
7	(HPO:0000930)	Elevated imprint of the transverse sinuses		3 / 7739
8	(HPO:0002007)	Frontal bossing		366 / 7739
9	(HPO:0000308)	Microretrognathia		78 / 7739
10	(HPO:0000933)	Posterior fossa cyst at the fourth ventricle		3 / 7739
11	(HPO:0000639)	Nystagmus		555 / 7739
12	(HPO:0000533)	Chorioretinal atrophy		24 / 7739
13	(HPO:0000627)	Posterior embryotoxon		15 / 7739
14	(HPO:0000369)	Low-set ears		372 / 7739
15	(HPO:0002078)	Truncal ataxia		41 / 7739
16	(HPO:0006824)	Cranial nerve paralysis		81 / 7739
17	(HPO:0001162)	Postaxial hand polydactyly	Very frequent [Orphanet]	119 / 7739
18	(HPO:0100259)	Postaxial polydactyly		85 / 7739
19	(HPO:0001643)	Patent ductus arteriosus		228 / 7739
20	(HPO:0001650)	Aortic valve stenosis		49 / 7739
21	(OMIM)	Aortic stenosis, severe (rare)		1 / 7739
22	(HPO:0002951)	Partial absence of cerebellar vermis		3 / 7739
23	(HPO:0000238)	Hydrocephalus		278 / 7739
24	(OMIM)	Partial or complete absence of the cerebellar vermis consistent with Dandy Walker malformation		1 / 7739
25	(OMIM)	Small palpebral fissures		6 / 7739
26	(OMIM)	Aortic stenosis, mild		1 / 7739
27	(HPO:0045025)	Narrow palpebral fissure		8 / 7739
28	(OMIM)	Pale optic nerves		2 / 7739
29	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
30	(OMIM)	Dilatation of the lateral and third ventricles		1 / 7739
31	(HPO:0002335)	Agenesis of cerebellar vermis		25 / 7739
32	(OMIM)	Posterior fossa cyst continuous with the fourth ventricle		1 / 7739
33	(OMIM)	Fleshy tumors of the tongue (rare)		1 / 7739
34	(HPO:0002198)	Dilated fourth ventricle		12 / 7739
35	(OMIM)	Aortic valve dysplasia, moderate		1 / 7739
36	(OMIM)	Discrete dilatation of the right kidney pelvis (rare)		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

The Dandy-Walker malformation (220200) is characterized by posterior fossa cyst continuous with the fourth ventricle, presumably representing agenesis of the foramina of Magendie and Luschka; partial or complete absence of the cerebellar vermis; and facultative hydrocephalus. Pierquin et ... The Dandy-Walker malformation (220200) is characterized by posterior fossa cyst continuous with the fourth ventricle, presumably representing agenesis of the foramina of Magendie and Luschka; partial or complete absence of the cerebellar vermis; and facultative hydrocephalus. Pierquin et al. (1989) reported male and female sib fetuses with the combination of DWM and postaxial polydactyly and suggested that the sibs reported by Egger et al. (1982) had the same syndrome, a disorder distinct from other conditions in which DWM has sometimes been observed, such as the Mohr syndrome (252100) and the Joubert-Boltshauser syndrome (JBTS; 213300). Pierquin et al. (1989) stated that the polydactyly seen with these other conditions is preaxial. The sibs reported by Egger et al. (1982) as having JBTS had postaxial polydactyly of the hands and feet, tachypnea up to 95 respirations per minute, and by computed tomography hypoplasia of the vermis, associated in 1 sib with a cyst of the fourth ventricle, consistent with DWM. One sib had fleshy tumors of the tongue. Cavalcanti and Salomao (1999) described a male infant, the product of first-cousin parents, in whom ultrasonography at 34 weeks' gestation showed polyhydramnios, posterior fossa cyst, cerebellar vermis agenesis, postaxial polydactyly, and discrete dilatation of the right kidney pelvis. Dysmorphism noted after birth included large head with dolichocephaly, broad and depressed nasal bridge, low-set ears, microretrognathia, and tetramelic postaxial polydactyly. Cerebral ultrasonography in the first days of life showed large posterior fossa cyst, cerebellar hypoplasia, and normal supratentorial ventricular system. Passalacqua et al. (2013) reported an infant with macrocephaly, frontal bossing, small palpebral fissures, flat nasal bridge, and bilateral postaxial polydactyly of the hands. MRI of the brain showed dilatation of the lateral and third ventricles, a thin corpus callosum, and a Dandy-Walker malformation. Echocardiography showed a patent ductus arteriosus, moderate aortic valve dysplasia, and mild aortic stenosis, which later progressed to severe stenosis. Ophthalmologic examination showed chorioretinal atrophy, posterior embryotoxon, and pale optic nerves. The authors suggested that their patient had the same condition as that described by Pierquin et al. (1989), although the cardiac and ophthalmologic manifestations had not previously been described. They proposed that this condition be called Pierquin syndrome.

Symptoms & Signs

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