Fuhrmann syndrome is a limb malformation disorder characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations and deformations of the musculoskeletal system
Autosomal recessive
3p25.1
Fuhrmann syndrome is a limb malformation disorder characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 228930.1 | Saudi Arabia | Female | Yes | Abnormal pelvic girdle bone morphology; ... Abnormal pelvic girdle bone morphology; Aplasia/Hypoplasia of the nails; Aplasia/hypoplasia of the extremities  | NM_004625.4:c.610G>A | Homozygous | Autosomal, Recessive | Al-Qattan et al. 2013 |