Short stature-craniofacial anomalies-genital hypoplasia syndrome

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Synonyms: Haspeslagh-Fryns-Muelenaere syndrome

A rare developmental defect during embryogenesis mainly characterized by severe intellectual disability short stature hypogonadism and distinct facial dysmorphism (including trigonocephaly prominent forehead asymmetric and flat face hypertelorism epicanthus downslanting palpebral fissures ptosis low-set angulated ears small mouth high-arched/cleft palate crowded teeth microretrognathia) as well as slender hands and/or feet. Variable additional features may include pterygia hypoplastic nipples cardiac anomaly distal muscular wasting limb contractures skeletal anomalies (e.g. scoliosis pectus excavatum bilateral clubfeet) hypothyroidism seizures and cerebral anomalies. Puberty may be delayed.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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