Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18-12-2018

Symbol	LPHAS
Location	3p25.1
Name	limb/pelvis-hypoplasia/aplasia syndrome
Other name(s)	Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome Ulna and fibula, absence of, with severe limb deficiency
Corresponding gene	WNT7A
Other symbol(s)	AARRS
Main clinical features	skeletal defects, Mullerian a- or hypoplasia, and occipital meningocele, with quadrilateral intercalary limb deficiencies, preaxial toe polydactyly, absent pelvis, large parietooccipital skull defect with no underlying brain abnormality, and extraskeletal anomalies including microtia, telecanthus, micropenis with cryptorchidism, renal cysts, stenosis of the colon, and a cleft alveolar ridge no mental retardation
Genetic determination	autosomal recessive
Related entries	including Fuhrmann syndrome (OMIM 228930)
Function/system disorder	osteo-articular
	sex-genitalia
	neurology
Type	disease

Remark(s)

Genotype/Phenotype correlations

a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout) the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout)