autosomal recessive distal osteolysis syndrome https://www.malacards.org/card/autosomal_recessive_distal_osteolysis_syndrome https://www.malacards.org/card/osteolysis_syndrome_recessive_2 osteolysis, distal, with short stature, intellectual disability, and characteristic facial appearance MESH:C536052 osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance osteolysis, distal, with short stature, mental retardation, and characteristic Facial appearance Orphanet:2776 Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. icd11.foundation:1878981266 MEDGEN:376714 osteolysis syndrome recessive UMLS:C1850143 Petit-Fryns syndrome GARD:0004299 distal osteolysis-short stature-intellectual disability syndrome OMIM:259610 MONDO:0009810 SCTID:715487005 primary osteolysis