Syndactyly - telecanthus - anogenital and renal malformations

General Information (adopted from Orphanet):

Synonyms, Signs: SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS
STAR
star syndrome
Number of Symptoms 27
OrphanetNr: 140952
OMIM Id: 300707
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
2
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
3
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
4
 (HPO:0010458) Female pseudohermaphroditism Frequent [Orphanet] 17 / 7739
5
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
6
 (HPO:0000083) Renal insufficiency Frequent [Orphanet] 232 / 7739
7
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
8
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
9
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
10
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
11
 (HPO:0000625) Cleft eyelid Occasional [Orphanet] 31 / 7739
12
 (HPO:0000545) Myopia Occasional [Orphanet] 286 / 7739
13
 (HPO:0008059) Aplasia/Hypoplasia of the macula Occasional [Orphanet] 21 / 7739
14
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
15
 (HPO:0000356) Abnormality of the outer ear Very frequent [Orphanet] 85 / 7739
16
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
17
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
18
 (HPO:0004209) Clinodactyly of the 5th finger Very frequent [Orphanet] 288 / 7739
19
 (HPO:0001770) Toe syndactyly Very frequent [Orphanet] 149 / 7739
20
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
21
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
22
 (HPO:0001633) Abnormality of the mitral valve Occasional [Orphanet] 69 / 7739
23
 (HPO:0001646) Abnormality of the aortic valve Occasional [Orphanet] 55 / 7739
24
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
25
 (HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
26
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
27
 (HPO:0003396) Syringomyelia Occasional [Orphanet] 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Green et al. (1996) described a mother and daughter with a consistent complex of malformations. The mother had anal stenosis with rectovaginal fistula, significant clitoromegaly, right pelvic kidney, hydronephrosis on the left, a narrow nose, asymptomatic ventricular septal ...
Molecular genetics OMIM On the basis of phenotypic overlap with Townes-Brocks syndrome (107480), Okihiro syndrome (607323) and Feingold syndrome (164280), Unger et al. (2008) analyzed the genes that are mutant in those disorders, respectively, SALL1 (602218), SALL4 (607343), and MYCN (164840), ...