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Holoprosencephaly - radial heart renal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs:	Steinfeld syndrome
Number of Symptoms	46
OrphanetNr:	3186
OMIM Id:	184705
ICD-10:	Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	No data available.
Inheritance:	Autosomal dominant inheritance [Omim]
Age of onset:

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
Syndromic renal or urinary tract malformation
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare renal disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0100542)	Abnormal localization of kidney	Occasional [Orphanet]	64 / 7739
2	(HPO:0008678)	Renal hypoplasia/aplasia	Occasional [Orphanet]	127 / 7739
3	(HPO:0008718)	Unilateral renal dysplasia		1 / 7739
4	(HPO:0000202)	Oral cleft	Frequent [Orphanet]	120 / 7739
5	(HPO:0009927)	Aplasia of the nose		3 / 7739
6	(HPO:0000193)	Bifid uvula		66 / 7739
7	(HPO:0000161)	Median cleft lip	Occasional [Orphanet]	27 / 7739
8	(HPO:0000601)	Hypotelorism	Occasional [Orphanet]	83 / 7739
9	(HPO:0000252)	Microcephaly	Very frequent [Orphanet]	832 / 7739
10	(HPO:0000568)	Microphthalmia		183 / 7739
11	(HPO:0009924)	Aplasia/Hypoplasia involving the nose	Very frequent [Orphanet]	18 / 7739
12	(HPO:0008501)	Median cleft lip and palate		7 / 7739
13	(HPO:0009914)	Cyclopia	Occasional [Orphanet]	11 / 7739
14	(HPO:0008056)	Aplasia/Hypoplasia affecting the eye	Frequent [Orphanet]	142 / 7739
15	(HPO:0007744)	Iridoretinal coloboma		2 / 7739
16	(HPO:0000612)	Iris coloboma	Occasional [Orphanet]	116 / 7739
17	(HPO:0000479)	Abnormality of the retina	Occasional [Orphanet]	74 / 7739
18	(HPO:0000372)	Abnormality of the auditory canal	Very frequent [Orphanet]	49 / 7739
19	(HPO:0008772)	Aplasia/Hypoplasia of the external ear	Very frequent [Orphanet]	67 / 7739
20	(HPO:0000377)	Abnormality of the pinna		111 / 7739
21	(HPO:0000365)	Hearing impairment	Occasional [Orphanet]	539 / 7739
22	(HPO:0002997)	Abnormality of the ulna	Frequent [Orphanet]	75 / 7739
23	(HPO:0003063)	Abnormality of the humerus	Occasional [Orphanet]	36 / 7739
24	(HPO:0002818)	Abnormality of the radius	Frequent [Orphanet]	96 / 7739
25	(HPO:0009829)	Phocomelia	Occasional [Orphanet]	20 / 7739
26	(HPO:0001829)	Foot polydactyly	Occasional [Orphanet]	41 / 7739
27	(HPO:0003022)	Hypoplasia of the ulna		40 / 7739
28	(HPO:0000921)	Missing ribs	Occasional [Orphanet]	62 / 7739
29	(HPO:0009601)	Aplasia/Hypoplasia of the thumb	Frequent [Orphanet]	80 / 7739
30	(HPO:0003422)	Vertebral segmentation defect	Frequent [Orphanet]	95 / 7739
31	(HPO:0003468)	Abnormality of the vertebrae		77 / 7739
32	(HPO:0002984)	Hypoplasia of the radius		44 / 7739
33	(HPO:0001539)	Omphalocele	Occasional [Orphanet]	102 / 7739
34	(HPO:0011467)	Absent gallbladder		6 / 7739
35	(HPO:0005264)	Abnormality of the gallbladder	Frequent [Orphanet]	14 / 7739
36	(HPO:0002623)	Overriding aorta	Occasional [Orphanet]	8 / 7739
37	(HPO:0001636)	Tetralogy of Fallot	Occasional [Orphanet]	104 / 7739
38	(HPO:0030680)	Abnormality of cardiovascular system morphology		355 / 7739
39	(HPO:0012443)	Abnormality of brain morphology	Very frequent [Orphanet]	45 / 7739
40	(HPO:0001360)	Holoprosencephaly		29 / 7739
41	(OMIM)	Absent philtrum		1 / 7739
42	(HPO:0000006)	Autosomal dominant inheritance		2518 / 7739
43	(OMIM)	Pentalogy of Fallot		1 / 7739
44	(HPO:0030680)	Abnormality of cardiovascular system morphology		355 / 7739
45	(HPO:0002536)	Abnormal cortical gyration	Occasional [Orphanet]	72 / 7739
46	(OMIM)	Bilateral hypoplasia of radius and ulna		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Steinfeld (1982) reported the case of a female infant with multiple congenital anomalies including holoprosencephaly, bilateral hypoplasia of radius and ulna, absent thumbs, midline cleft lip and palate with absent philtrum, congenital heart defect, unilateral renal dysplasia, and ... Steinfeld (1982) reported the case of a female infant with multiple congenital anomalies including holoprosencephaly, bilateral hypoplasia of radius and ulna, absent thumbs, midline cleft lip and palate with absent philtrum, congenital heart defect, unilateral renal dysplasia, and absent gallbladder. A sister died of similar malformations including phocomelia, absent gallbladder, ectopic kidney, and congenital heart defect. The father had short forearms and rudimentary thumbs. His sister died in infancy with severely malformed limbs; his father and a brother lacked thumbs. The familial pattern was considered consistent with autosomal dominant inheritance of a trait involving, at the very least, limb defects. Nothen et al. (1993) reported a second family with Steinfeld syndrome with dominant inheritance and variable expression. The proband was a male fetus with alobar holoprosencephaly, microphthalmia, midline cleft lip and palate, absent nose, dysplastic ears, radial defects, pentalogy of Fallot, unilateral renal aplasia, absent gallbladder, vertebral anomalies, and absent ribs. The father had a cleft palate, bilateral colobomas of the iris and retina, a bifid uvula, vertebral anomalies, and unilateral congenital hearing loss. His sister had a cleft lip. Stevens (2010) reported a 23-week-old male fetus with severe congenital anomalies consistent with Steinfeld syndrome. Prenatal ultrasound revealed alobar holoprosencephaly, abdominal situs inversus, abnormal cardiac valves, and severe limb defects. On postmortem exam, the fetus was noted to have small eyes, bilateral cleft lip and palate, low set malformed ears with absent canals, and micrognathia. The forearms were absent with 3 digits attached at each elbow. The legs were absent, and the right foot with 4 toes was attached to the right side of the pelvis; a single digit was attached to the left side of the pelvis. There was a normal penis, absent scrotum, and patent anus. Radiographs showed absence of the radii, ulnas, femora, tibias, fibulas, and the left iliac crest. There were only 2 metacarpals in each hand. There was also a cleft in the upper lumbar spine seen on lateral view. Chromosome analysis and comparative genomic hybridization studies were normal, and sequence analysis of known holoprosencephaly-associated genes did not identify mutations.

Symptoms & Signs

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