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Holoprosencephaly - postaxial polydactyly

General Information (adopted from Orphanet):

Synonyms, Signs:	HOLOPROSENCEPHALY-POLYDACTYLY SYNDROME Pseudo-trisomy 13 syndrome
Number of Symptoms	76
OrphanetNr:	2166
OMIM Id:	264480
ICD-10:	Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Antenatal Neonatal [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
-Rare developmental defect during embryogenesis
-Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
-Rare genetic disease
Rare intellectual deficit with developmental anomaly
-Rare neurologic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000028)	Cryptorchidism		347 / 7739
2	(HPO:0000813)	Bicornuate uterus		22 / 7739
3	(HPO:0100542)	Abnormal localization of kidney	Occasional [Orphanet]	64 / 7739
4	(HPO:0000062)	Ambiguous genitalia	Frequent [Orphanet]	74 / 7739
5	(HPO:0000054)	Micropenis	Very frequent [Orphanet]	257 / 7739
6	(HPO:0008678)	Renal hypoplasia/aplasia	Occasional [Orphanet]	127 / 7739
7	(HPO:0000089)	Renal hypoplasia		78 / 7739
8	(HPO:0000104)	Renal agenesis		68 / 7739
9	(HPO:0000035)	Abnormality of the testis	Frequent [Orphanet]	296 / 7739
10	(HPO:0000047)	Hypospadias	Frequent [Orphanet]	250 / 7739
11	(HPO:0008501)	Median cleft lip and palate		7 / 7739
12	(HPO:0100335)	Non-midline cleft lip		12 / 7739
13	(HPO:0000277)	Abnormality of the mandible	Occasional [Orphanet]	394 / 7739
14	(HPO:0000160)	Narrow mouth	Occasional [Orphanet]	188 / 7739
15	(HPO:0000252)	Microcephaly	Frequent [Orphanet]	832 / 7739
16	(HPO:0010650)	Hypoplasia of the premaxilla	Very frequent [Orphanet]	39 / 7739
17	(HPO:0002084)	Encephalocele	Occasional [Orphanet]	70 / 7739
18	(HPO:0009932)	Single naris	Occasional [Orphanet]	10 / 7739
19	(HPO:0000174)	Abnormality of the palate	Frequent [Orphanet]	298 / 7739
20	(HPO:0009914)	Cyclopia	Occasional [Orphanet] rare [HPO:skoehler]	11 / 7739
21	(HPO:0000202)	Oral cleft	Frequent [Orphanet]	120 / 7739
22	(HPO:0000601)	Hypotelorism	Very frequent [Orphanet]	83 / 7739
23	(HPO:0000568)	Microphthalmia		183 / 7739
24	(HPO:0000582)	Upslanted palpebral fissure		185 / 7739
25	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Very frequent [Orphanet]	142 / 7739
26	(HPO:0000357)	Abnormal location of ears	Frequent [Orphanet]	328 / 7739
27	(HPO:0000358)	Posteriorly rotated ears		163 / 7739
28	(HPO:0000369)	Low-set ears		372 / 7739
29	(HPO:0008207)	Primary adrenal insufficiency	Frequent [Orphanet]	26 / 7739
30	(HPO:0000835)	Adrenal hypoplasia		23 / 7739
31	(HPO:0005990)	Thyroid hypoplasia	Frequent [Orphanet]	21 / 7739
32	(HPO:0000864)	Abnormality of the hypothalamus-pituitary axis	Frequent [Orphanet]	23 / 7739
33	(HPO:0002937)	Hemivertebrae		41 / 7739
34	(HPO:0001162)	Postaxial hand polydactyly	Very frequent [Orphanet]	119 / 7739
35	(HPO:0000878)	11 pairs of ribs		19 / 7739
36	(HPO:0100259)	Postaxial polydactyly		85 / 7739
37	(HPO:0001762)	Talipes equinovarus	Occasional [Orphanet]	309 / 7739
38	(HPO:0004691)	2-3 toe syndactyly		50 / 7739
39	(HPO:0001830)	Postaxial foot polydactyly		37 / 7739
40	(HPO:0001561)	Polyhydramnios	Occasional [Orphanet]	191 / 7739
41	(HPO:0002566)	Intestinal malrotation	Occasional [Orphanet]	89 / 7739
42	(HPO:0001539)	Omphalocele	Occasional [Orphanet]	102 / 7739
43	(HPO:0002023)	Anal atresia	Frequent [Orphanet]	135 / 7739
44	(HPO:0001537)	Umbilical hernia	Occasional [Orphanet]	206 / 7739
45	(HPO:0001674)	Complete atrioventricular canal defect		11 / 7739
46	(HPO:0011662)	Tricuspid atresia		4 / 7739
47	(HPO:0001631)	Atria septal defect		274 / 7739
48	(HPO:0030680)	Abnormality of cardiovascular system morphology	Frequent [Orphanet]	355 / 7739
49	(HPO:0004760)	Congenital septal defect	Frequent [Orphanet]	69 / 7739
50	(HPO:0001680)	Coarctation of aorta		57 / 7739
51	(HPO:0001629)	Ventricular septal defect		316 / 7739
52	(HPO:0001651)	Dextrocardia		38 / 7739
53	(HPO:0002101)	Abnormal lung lobation	Frequent [Orphanet]	33 / 7739
54	(HPO:0002086)	Abnormality of the respiratory system		17 / 7739
55	(HPO:0001252)	Muscular hypotonia	Frequent [Orphanet]	990 / 7739
56	(HPO:0001324)	Muscle weakness		859 / 7739
57	(HPO:0008947)	Infantile muscular hypotonia		482 / 7739
58	(HPO:0010547)	Muscle flaccidity		466 / 7739
59	(OMIM)	Duplicate uterus		1 / 7739
60	(OMIM)	Cebocephaly		2 / 7739
61	(MedDRA:10063146)	Uterine hypoplasia		3 / 7739
62	(OMIM)	Deep scrotal raphe		1 / 7739
63	(OMIM)	Duplicate vagina		1 / 7739
64	(HPO:0002126)	Polymicrogyria		64 / 7739
65	(OMIM)	Absent olfactory bulbs and tracts		2 / 7739
66	(HPO:0000238)	Hydrocephalus	Frequent [Orphanet]	278 / 7739
67	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
68	(HPO:0001360)	Holoprosencephaly		29 / 7739
69	(HPO:0002334)	Abnormality of the cerebellar vermis	Occasional [Orphanet]	137 / 7739
70	(HPO:0012443)	Abnormality of brain morphology	Frequent [Orphanet]	45 / 7739
71	(HPO:0002139)	Arrhinencephaly		13 / 7739
72	(OMIM)	Normal karyotype		5 / 7739
73	(HPO:0007370)	Aplasia/Hypoplasia of the corpus callosum	Frequent [Orphanet]	180 / 7739
74	(HPO:0001321)	Cerebellar hypoplasia		114 / 7739
75	(OMIM)	Malsegmentation		1 / 7739
76	(HPO:0001274)	Agenesis of corpus callosum		142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Hewitt et al. (1989) reported a fetus with holoprosencephaly and polydactyly and a normal karyotype. They cited 2 similar reports (Young and Madders, 1987; Moerman and Fryns, 1988). Because holoprosencephaly and polydactyly are features of trisomy 13, Hewitt ... Hewitt et al. (1989) reported a fetus with holoprosencephaly and polydactyly and a normal karyotype. They cited 2 similar reports (Young and Madders, 1987; Moerman and Fryns, 1988). Because holoprosencephaly and polydactyly are features of trisomy 13, Hewitt et al. (1989) suggested the designation pseudotrisomy 13. Cohen and Gorlin (1991) used the term pseudotrisomy 13 syndrome to designate cases of holoprosencephaly, severe facial anomalies, postaxial polydactyly, various other congenital defects, and normal chromosomes. They summarized 11 examples. They concluded that the cases reported by Bachman et al. (1990) were instances of this syndrome and not of the hydrolethalus syndrome (see 236680). The other cases from the literature cited by Bachman et al. (1990) as holoprosencephaly in hydrolethalus syndrome were thought by Cohen and Gorlin (1991) to be in error. Verloes et al. (1991) observed 5 unrelated children with the syndrome and suggested the designation holoprosencephaly-polydactyly syndrome. They commented on the phenotypic overlap not only with the hydrolethalus syndrome but also with lethal acrodysgenital dwarfism (see Smith-Lemli-Opitz syndrome, 270400). Hennekam et al. (1991) emphasized the occurrence of heart defect with holoprosencephaly and postaxial polydactyly. They reported male and female sibs, the offspring of second-cousin parents. Seller et al. (1993) diagnosed prenatally 2 sibs with holoprosencephaly, midface hypoplasia, and normal chromosomes. One of the sibs also had polydactyly. Ramos-Arroyo et al. (1994) reported the case of a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a normal 46,XX karyotype. This is a instance of uncertainty between variable expression and basic heterogeneity. They reviewed reports of 22 cases of pseudotrisomy 13 syndrome and found postaxial polydactyly in 19 and preaxial polydactyly in 1. Amor and Woods (2000) described a brother and sister with pseudotrisomy 13. Both had holoprosencephaly, polydactyly, cardiac lesions, and a normal karyotype. The parents were first cousins.

Symptoms & Signs

	Field	Query
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