Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Inborn skeletal malformations

Inborn skeletal malformations are abnormalities of the skeletal system that become apparent before or immediately after birth.

Systematic

Hereditary musculoskeletal diseases
Hereditary bone disease
Hereditary muscle diseases
Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
KIF7
Brachydactyly
Brachydactyly type A1
Brachydactyly type A1, A
IHH
Brachydactyly type A1, B
Brachydactyly type A1, C
GDF5
Brachydactyly type A1, D
BMPR1B
Brachydactyly type A2
BMPR1B
Brachydactyly type A3
Brachydactyly type A4
Brachydactyly type B1
ROR2
Brachydactyly type B2
NOG
Brachydactyly type C
GDF5
Brachydactyly type D
HOXD13
Brachydactyly type E1
HOXD13
Brachydactyly type E2
PTHLH
Brachydactyly types B and E combined
Brachydactyly-syndactyly
HOXD13
Fibular aplasia-complex brachydactyly syndrome
GDF5
Branchio-oculo-facial syndrome
TFAP2A
Congenital contractural arachnodactyly
FBN2
Ehlers-Danlos syndrome due to tenascin-X deficiency
TNXB
Hydrolethalus 2
KIF7
Lacrimoauriculodentodigital syndrome
FGF10
Multiple synostoses syndrome
Multiple synostoses syndrome 1
NOG
Multiple synostoses syndrome 2
GDF5
Multiple synostoses syndrome 3
FGF9
NOG
Multiple synostoses syndrome 3
FGF9
Orofacial cleft 11
BMP4
Orofaciodigital syndrome
Orofaciodigital syndrome 01
OFD1
Orofaciodigital syndrome 04
TCTN3
Orofaciodigital syndrome 06
CPLANE1
Orofaciodigital syndrome 16
TMEM107
Orofaciodigital syndrome 9
Periodontal Ehlers-Danlos syndrome
C1R
C1S
Proximal symphalangism
Proximal symphalangism 1A
NOG
Proximal symphalangism 1B
GDF5
Renal tubular acidosis with arthrogryposis
Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B
Arthrogryposis, renal dysfunction, and cholestasis 2
VIPAS39
Simpson-Golabi-Behmel syndrome
Simpson-Golabi-Behmel syndrome 1
GPC3
Simpson-Golabi-Behmel syndrome 2
OFD1
Stapes ankylosis with broad thumbs and toes
NOG
Syndactyly type 5
HOXD13
Synpolydactyly type 1
HOXD13
Tarsal-carpal coalition syndrome
NOG
Tatton-Brown-Rahman syndrome
DNMT3A
Townes-Brocks syndrome
SALL1
Townes-Brocks branchiootorenal-like syndrome
SALL1
Townes-Brocks syndrome 1
SALL1
Townes-Brocks syndrome 2
DACT1
Trigonocephaly 2
FREM1
Van Maldergem syndrome 2
FAT4
Short stature
Update: April 29, 2019