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Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome

MedGen UID:
340887
Concept ID:
C1855499
Disease or Syndrome
Synonym: FATCO SYNDROME
SNOMED CT: FATCO syndrome (783156008); Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome (783156008)
 
Monarch Initiative: MONDO:0009526
OMIM®: 246570

Definition

FATCO syndrome comprises fibular aplasia, tibial campomelia, and oligosyndactyly (Courtens et al., 2005). See also ectrodactyly (split-hand/foot malformation) associated with fibular hypoplasia/aplasia (113310). [from OMIM]

Clinical features

From HPO
Abnormality of the hand
MedGen UID:
6715
Concept ID:
C0018564
Anatomical Abnormality
An abnormality affecting one or both hands.
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Fibular aplasia
MedGen UID:
373034
Concept ID:
C1836186
Finding
Absence of the fibula.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Foot oligodactyly
MedGen UID:
923973
Concept ID:
C4281601
Anatomical Abnormality
A developmental defect resulting in the presence of fewer than the normal number of toes.
Finger aplasia
MedGen UID:
1841564
Concept ID:
C5779506
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of fingers (i.e., aplasia of one or more fingers).

Recent clinical studies

Etiology

Sezer O, Gebesoglu I, Yuan B, Karaca E, Gokce E, Gunes S
Clin Dysmorphol 2014 Oct;23(4):121-6. doi: 10.1097/MCD.0000000000000051. PMID: 25144151

Diagnosis

Matalon DR, Bhoj EJ, Li D, McDougall C, Schindewolf E, Khalek N, Wilkens A, McManus M, Deardorff MA, Zackai EH
Am J Med Genet A 2023 Apr;191(4):977-982. Epub 2023 Jan 6 doi: 10.1002/ajmg.a.63105. PMID: 36610046
Hashmi HM, Shamim N, Kumar V, Mirza A, Kirmani S, Irfan B, Hasan H
J Pak Med Assoc 2022 May;72(5):975-977. doi: 10.47391/JPMA.3793. PMID: 35713069
Yucel Celik O, Gultekin Calik M, Keles A, Tos T, Yucel A, Sahin D
Clin Dysmorphol 2021 Jul 1;30(3):147-149. doi: 10.1097/MCD.0000000000000366. PMID: 33605603
Marinho M, Nunes S, Lourenço C, Melo M, Godinho C, Nogueira R
J Clin Ultrasound 2021 Jul;49(6):625-629. Epub 2020 Dec 16 doi: 10.1002/jcu.22969. PMID: 33330974
Ahmad K, Ahmad Malla H, Dawood S
Ortop Traumatol Rehabil 2017 Jan 26;19(1):75-78. doi: 10.5604/15093492.1235280. PMID: 28436373

Prognosis

Marinho M, Nunes S, Lourenço C, Melo M, Godinho C, Nogueira R
J Clin Ultrasound 2021 Jul;49(6):625-629. Epub 2020 Dec 16 doi: 10.1002/jcu.22969. PMID: 33330974
Sezer O, Gebesoglu I, Yuan B, Karaca E, Gokce E, Gunes S
Clin Dysmorphol 2014 Oct;23(4):121-6. doi: 10.1097/MCD.0000000000000051. PMID: 25144151

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