Ear-Patella-Short Stature Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

ORC1, CDT1, GMNN, ORC6, CDC6, ORC4, CDC45, BMP5, DRD2, SLC6A3, CYP2D6, MAPK1, MYH9, TLR4, MTOR, RBP4, MCM5, PSEN1, COMT, PTH, MAPK3, SOD1, RELA, PRKCA, PRKACG, RGS2, ATXN2, SLC18A2, VEGFA, SYT1

ORC1, CDT1, GMNN, ORC6, CDC6, ORC4, CDC45, BMP5, DRD2, SLC6A3, CYP2D6, MAPK1, MYH9, TLR4, MTOR, RBP4, MCM5, PSEN1, COMT, PTH, MAPK3, SOD1, RELA, PRKCA, PRKACG, RGS2, ATXN2, SLC18A2, VEGFA, SYT1, TGFB1, TNF, PIK3CG, PDPN, POSTN, CHEK2, PLCB1, SIRT1, ORC3, DISC1, CLEC7A, GORASP1, WNK1, PLA2G4A, ACTG1, PIK3CA, HTR2A, ASPH, BRCA2, BSG, CD2, COL1A1, CRP, CCN2, DRD3, EPHB2, FANCD2, FASN, FOXM1, GNAS, GRIK3, IL6, SERPINE1, IL10, INSR, ITPR1, LEP, CYP4F3, LY6E, LYZ, MAOB, MCM2, ATXN3, NOS2, ACTB, APOE, PAEP, ACHE

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Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

Epidemiology

Ear-patella-short stature syndrome is a rare condition, with less than 50 cases reported in the literature.

Clinical description

Other skeletal anomalies include dislocation of the elbow, slender ribs and long bones, abnormal modelling of the glenoid fossas with hooked clavicles, and clinodactyly. Bone age is significantly delayed and long bone epiphyses are flattened. Hypoplastic genitalia have been reported in affected boys and girls. Some patients have severe deafness, which may impair neuromotor and mental development, and cognitive ability may be subnormal.

Etiology

The etiology remains unknown: all genes evaluated in affected patients were normal.

Diagnostic methods

Neuroradiographic imaging and functional inner ear investigations are recommended in the diagnostic workup.

Genetic counseling

Reports of parental consanguinity in some cases, the equal sex ratio, and the occurrence of affected sibs provide strong evidence for an autosomal recessive mode of inheritance.