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Chromosome 17P13.3, telomeric, duplication syndrome(SHFLD3)

MedGen UID:
390813
Concept ID:
C2675492
Disease or Syndrome
Synonyms: SHFLD3; Split-Hand-Foot Malformation With Long Bone Deficiency 3
 
Monarch Initiative: MONDO:0012944
OMIM®: 612576

Clinical features

From HPO
Clubfoot
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Ectrodactyly
MedGen UID:
78566
Concept ID:
C0265554
Congenital Abnormality
A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Short toe
MedGen UID:
322858
Concept ID:
C1836195
Finding
A toe that appears disproportionately short compared to the foot.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Absent hallux
MedGen UID:
374772
Concept ID:
C1841686
Finding
Aplasia of the hallux, that is, a development defect such that the big toe does not develop.
Short tibia
MedGen UID:
338005
Concept ID:
C1850259
Finding
Underdevelopment (reduced size) of the tibia.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.
Absent tibia
MedGen UID:
478374
Concept ID:
C3276744
Finding
Absence of the tibia.
Absent toe
MedGen UID:
766668
Concept ID:
C3553754
Finding
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Oligodactyly
MedGen UID:
854358
Concept ID:
C3887496
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
3-4 finger cutaneous syndactyly
MedGen UID:
868712
Concept ID:
C4023115
Congenital Abnormality
A soft tissue continuity in the A/P axis between fingers 3 and 4.
Camptodactyly
MedGen UID:
195780
Concept ID:
C0685409
Congenital Abnormality
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.
Finger symphalangism
MedGen UID:
867041
Concept ID:
C4021399
Anatomical Abnormality
An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly.
Contracture of the proximal interphalangeal joint of the 3rd finger
MedGen UID:
867109
Concept ID:
C4021467
Anatomical Abnormality
Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue.
Contracture of the proximal interphalangeal joint of the 4th finger
MedGen UID:
867145
Concept ID:
C4021503
Anatomical Abnormality
Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement.

Recent clinical studies

Diagnosis

Morales C, Soler A, Margarit E, Madrigal I, Sánchez A
Am J Med Genet A 2007 Oct 15;143A(20):2423-9. doi: 10.1002/ajmg.a.31777. PMID: 17853459

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