Fuhrmann syndrome; Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
Description
Fuhrmann syndrome is a non-lethal limb malformation disorder with various degrees of limb aplasia/hypoplasia and joint dysplasia. Major manifestations include hypoplasia of the pelvis, aplasia or hypoplasia of fibulae, severe bowing of femora, absence of nails, and polydactyly.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H00846 Fuhrmann syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H00846 Fuhrmann syndrome
Poly-, syn- and oligodactylyl, aplasia or hypoplasia of fibula, hypoplasia of pelvis and bowing of femora in three sibs--a new autosomal recessive syndrome.
Al-Awadi/Raas-Rothschild syndrome; Ulna and fibula, absence of, with sever limb deficiency
Description
Al-Awadi/Raas-Rothschild syndrome (AARRS) is a limb malformation disorder that has overlapping phenotype with Fuhrmann syndrome, but more-severe limb truncation is observed. This is due to complete loss of WNT7A function in AARRS whereas impairment is partial in Fuhrmann syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD26 Syndromes with limb anomalies as a major feature
H00847 Al-Awadi/Raas-Rothschild syndrome
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06505 WNT signaling
H00847 Al-Awadi/Raas-Rothschild syndrome
Camera G, Ferraiolo G, Leo D, Spaziale A, Pozzolo S
Title
Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.
