syndromic intellectual disability syndromic disease multiple congenital anomalies/dysmorphic syndrome-intellectual disability deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/deafness_genital_anomalies_metacarpal_and_metatarsal_synostosis_syndrome MEDGEN:419464 Pfeiffer-Kapferer syndrome short stature, intellectual disability and multiple dysmorphisms Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome is characterized by sensorineural deafness, bilateral synostosis of the 4th and 5th metacarpals and metatarsals, genital anomalies (hypospadias in males), psychomotor delay and abnormal dermatoglyphics. So far, it has been described in two unrelated patients. Facial dysmorphism was noted in both patients (prominent forehead, ear anomalies, facial asymmetry and an open mouth appearance). SCTID:721086004 short stature, mental retardation and multiple dysmorphisms Pfeiffer Kapferer syndrome MONDO:0017920 Orphanet:3224 UMLS:C2931654 GARD:0004303 MESH:C537887 sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5