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Curry-Jones syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:	CURRY-JONES SYNDROME Corpus callosum agenesis - polysyndactyly
Number of Symptoms	39
OrphanetNr:	1553
OMIM Id:	601707
ICD-10:	Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	9 cases [Orphanet]
Inheritance:	Unknown [Orphanet]
Age of onset:	Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
-Rare developmental defect during embryogenesis
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
-Rare developmental defect during embryogenesis
-Rare neurologic disease
Syndromic craniosynostosis
-Rare bone disease
-Rare developmental defect during embryogenesis
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0011331)	Hemifacial atrophy	Frequent [Orphanet]	79 / 7739
2	(HPO:0001363)	Craniosynostosis	Frequent [Orphanet]	132 / 7739
3	(HPO:0000568)	Microphthalmia		183 / 7739
4	(HPO:0000316)	Hypertelorism	Very frequent [Orphanet]	644 / 7739
5	(HPO:0000581)	Blepharophimosis		197 / 7739
6	(HPO:0000324)	Facial asymmetry		57 / 7739
7	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Frequent [Orphanet]	142 / 7739
8	(HPO:0000588)	Optic nerve coloboma	Occasional [Orphanet]	27 / 7739
9	(HPO:0000589)	Coloboma		47 / 7739
10	(HPO:0000612)	Iris coloboma	Occasional [Orphanet]	116 / 7739
11	(HPO:0000479)	Abnormality of the retina	Occasional [Orphanet]	74 / 7739
12	(HPO:0001159)	Syndactyly		140 / 7739
13	(HPO:0010621)	Cutaneous syndactyly of toes		36 / 7739
14	(HPO:0100258)	Preaxial polydactyly		39 / 7739
15	(HPO:0009700)	Finger symphalangism		55 / 7739
16	(HPO:0006101)	Finger syndactyly	Very frequent [Orphanet]	198 / 7739
17	(HPO:0009611)	Bifid distal phalanx of the thumb	Frequent [Orphanet]	15 / 7739
18	(HPO:0001177)	Preaxial hand polydactyly	Occasional [Orphanet]	59 / 7739
19	(HPO:0001829)	Foot polydactyly	Frequent [Orphanet]	41 / 7739
20	(HPO:0001770)	Toe syndactyly	Frequent [Orphanet]	149 / 7739
21	(HPO:0001172)	Abnormality of the thumb	Frequent [Orphanet]	103 / 7739
22	(HPO:0002244)	Abnormality of the small intestine	Occasional [Orphanet]	12 / 7739
23	(HPO:0002566)	Intestinal malrotation	Occasional [Orphanet]	89 / 7739
24	(HPO:0002025)	Anal stenosis		23 / 7739
25	(HPO:0002012)	Abnormality of the abdominal organs		2 / 7739
26	(HPO:0008065)	Aplasia/Hypoplasia of the skin	Frequent [Orphanet]	81 / 7739
27	(HPO:0001053)	Hypopigmented skin patches	Very frequent [Orphanet]	80 / 7739
28	(HPO:0011362)	Abnormal hair quantity	Frequent [Orphanet]	92 / 7739
29	(HPO:0000951)	Abnormality of the skin		147 / 7739
30	(OMIM)	Basal skull shortness		1 / 7739
31	(HPO:0001274)	Agenesis of corpus callosum		142 / 7739
32	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Frequent [Orphanet]	180 / 7739
33	(HPO:0012758)	Neurodevelopmental delay	Frequent [Orphanet]	949 / 7739
34	(OMIM)	Cranial defects		1 / 7739
35	(HPO:0012719)	Functional abnormality of the gastrointestinal tract	Frequent [Orphanet]	17 / 7739
36	(OMIM)	Multiple gastrointestinal myofibromata		1 / 7739
37	(HPO:0002119)	Ventriculomegaly	Frequent [Orphanet]	253 / 7739
38	(OMIM)	Unilateral craniosynostosis		1 / 7739
39	(OMIM)	Skin defects		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Temple et al. (1995) described 5 unrelated children (3 males and 2 females) with the association of cranial defects, polysyndactyly, and defects of the skin and gastrointestinal tract. Gorlin et al. (1990) proposed the designation Curry-Jones syndrome for ... Temple et al. (1995) described 5 unrelated children (3 males and 2 females) with the association of cranial defects, polysyndactyly, and defects of the skin and gastrointestinal tract. Gorlin et al. (1990) proposed the designation Curry-Jones syndrome for this disorder, which was first reported by Curry at the 1987 David W. Smith Meeting (Cohen, 1997). Unilateral craniosynostosis and shortness of the base of the skull caused striking asymmetry of the face with narrow palpebral fissures. Complete (1) or partial (2) absence of the corpus callosum was found in 3 patients. One of the male infants had coloboma, and another had microphthalmia. All patients had preaxial polydactyly and syndactyly of the hands and/or feet. Multiple gastrointestinal myofibromata were found in 2 children, one of whom also had anal stenosis. All 5 had abnormal skin with areas of atrophy, although dermatologic manifestations were different in all the cases. None of the parents in these families were consanguineous, and there were no affected relatives. Mingarelli et al. (1999) described a boy with microcephaly, brachycephaly, bifid halluces with osseous syndactyly of bifid proximal phalanges and bifid distal phalanges, bilateral ptosis of eyelids, bilateral horizontal nystagmus, microcornea, cataract and colobomas affecting iris, inferior choroids, and extending throughout the optical nerves, and several linear areas of skin depigmentation in the lumbar region. Mingarelli et al. (1999) noted phenotypic overlap with Curry-Jones syndrome but suggested that the features in their patient represented a 'new' syndrome. Thomas et al. (2006) described a 4-year-old boy with a mild form of Curry-Jones syndrome with no significant craniofacial, developmental, or gastrointestinal problems. Grange et al. (2008) reported 2 patients with Curry-Jones syndrome who had previously unreported features; one had multiple intraabdominal smooth muscle hamartomas and trichoblastoma of the skin, and the other was born with occipital meningoceles and developed a desmoplastic medulloblastoma. Based on an association of trichoblastoma with basal cell carcinoma and of desmoplastic medulloblastoma with nevoid basal cell carcinoma syndrome (109400) and PTCH (601309) mutations, the authors suggested that Curry-Jones syndrome may be caused by mutation in genes in the Sonic hedgehog (SHH) signaling pathway (see 600725). Molecular analysis in their patients excluded mutation in the PTCH and GLI3 (165240) genes.

Symptoms & Signs

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