short stature-craniofacial anomalies-genital hypoplasia syndrome https://www.malacards.org/card/pterygia_impaired_intellectual_development_and_distinctive_craniofacial_features https://www.malacards.org/card/short_stature_craniofacial_anomalies_genital_hypoplasia_syndrome MESH:C535844 pterygia, mental retardation and distinctive craniofacial features MONDO:0008335 UMLS:C1867443 SCTID:716090004 Haspeslagh-Fryns-Muelenaere syndrome MEDGEN:357988 pterygia intellectual disability facial dysmorphism Orphanet:2994 pterygia, mental retardation, and distinctive craniofacial features pterygia, intellectual disability and distinctive craniofacial features OMIM:177980 Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. GARD:0002605 pterygia mental retardation facial dysmorphism multiple congenital anomalies/dysmorphic syndrome without intellectual disability