Klinische FragestellungKlumpfuß, Differentialdiagnose

NGS +

Klumpfuß beschreibt eine Reihe von angeborenen Fußanomalien, der Fuß ist aus der Form/Stellung verdreht. Die Sehnen, die die Muskeln mit dem Knochen verbinden, sind verkürzt. Klumpfuss ist ein ziemlich häufiger Geburtsfehler und stellt normalerweise ein isoliertes Problem für ansonsten gesunde Neugeborene dar.

• Allelic: Amelia, posterior, with pelvic + pulmonary hypoplasia syndrome (TBX4)
• Allelic: Arthrogryposis, distal, type 3 +5 (PIEZO2)
• Allelic: Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
• Allelic: Ehlers-Danlos syndrome, musculocontractural type 1 (CHST14)
• Allelic: Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Allelic: Ischiocoxopodopatellar syndrome with/-out pulmonary arterial hypertension (TBX4)
• Allelic: Marden-Walker syndrome [dist. arthrogryp., ment. retard., kyphoscol., dist. face] (PIEZO2)
• Allelic: SBBYSS syndrome (KAT6B)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Achondrogenesis Ib (SLC26A2)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Liebenberg syndrome [carpal synostosis with dysplastic elbow joints, brachydactyly] (PITX1)
• Allelic: Microcephaly, Amish type (SLC25A19)
• Allelic: Otopalatodigital syndrome, type I (FLNC)
• Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Arthrogryposis, distal, type 1A (TPM2)
• Arthrogryposis, distal, type 2B4 (TPM2)
• Atelosteogenesis, type I (FLNB)
• Atelosteogenesis, type II (SLC26A2)
• Atelosteogenesis, type III (FLNB)
• Boomerang dysplasia (FLNB)
• Clubfoot, congenital, with/-out deficiency of long bones and/or mirror-image polydactyly (PITX1)
• Congenital disorder of glycosylation, type IIj (COG4)
• D-bifunctional protein deficiency (HSD17B4)
• De la Chapelle dysplasia (SLC26A2)
• Diastrophic dysplasia (SLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Familial clubfoot due to 17q23.1q23.2 microduplication
• Familial clubfoot due to 5q31 microdeletion
• Galactose epimerase deficiency (GALE)
• Genitopatellar syndrome (KAT6B)
• Isolated club foor association [Lit.] (FSTL5)
• Larsen syndrome (FLNB)
• Multiple joint dislocations, short stature, craniofacial dysmorph. +/- cong. heart defects (B3GAT3)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy, cong. without impaired intell. developm., type B, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 4 (FKTN)
• Otopalatodigital syndrome, type II (FLNC)
• Perrault syndrome 1 (HSD17B4)
• Pontocerebellar hypoplasia type 1B (EXOSC3)
• Pontocerebellar hypoplasia type 2A (TSEN54)
• Pontocerebellar hypoplasia type 4 (TSEN54)
• Pontocerebellar hypoplasia type 5 (TSEN54)
• Saul-Wilson syndrome (COG4)
• Shprintzen-Goldberg syndrome (SKI)
• Spastic paraplegia 45, AR (NT5C2)
• Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Spondylocarpotarsal synostosis syndrome (FLNB)
• Spondyloepiphyseal dysplasia with congenital joint dislocations (CHST3)
• TARP syndrome [Talipes equinov., Atrial septal def., Robin sequ., Persist. sup. vena cava] (RBM10)
• Thiamine metabolism dysfunction syndrome 4, progressive polyneuropathy type (SLC25A19)