LD25.00

ICD-11 MMS 2026-01

Oral-facial-digital syndrome

Description

A condition caused by failure of the head and digits to correctly develop during the antenatal period. This condition may be associated with cleft or lobed tongue, noncancerous tumours or nodules of the tongue, abnormal shape or number of teeth, cleft palate, hyperplastic frenula of the lip or gums, cleft lip, hypertelorism, wide nose with broad, flat nasal bridge, syndactyly, brachydactyly, clinodactyly, polydactyly, polycystic kidney disease, neurological problems, bone abnormalities, vision loss, or heart defects.

Index terms

  • Oral-facial-digital syndrome
  • Oral-facial-digital syndrome type 1
  • OFD1 - [orolfacialdigital syndrome 1]
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  • Orofaciodigital syndrome type 1
  • Papillon-Léage-Psaume syndrome
  • Oral-facial-digital syndrome type 2
  • Oral-facial-digital syndrome type 3
  • Oral-facial-digital syndrome type 4
  • Oral-facial-digital syndrome type 5
  • Oral-facial-digital syndrome type 6
  • Joubert syndrome with orofaciodigital defect
  • Oral-facial-digital syndrome type 8
  • Oral-facial-digital syndrome type 9
  • Oral-facial-digital syndrome type 10
  • Oral-facial-digital syndrome type 11
  • Oral-facial-digital syndrome type 12
  • Oral-facial-digital syndrome type 13

Exclusions from above levels

  • LD27.0Y – Ectrodactyly - ectodermal dysplasia - cleft lip or palate
  • LD2F.1Y – Ectrodactyly - cleft palate
  • LD26.4Y – Freeman-Sheldon syndrome
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  • http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

  • LD25.0Y – Other specified oromandibular-limb anomaly syndrome
  • LD25.0Z – Oromandibular-limb anomaly syndrome, unspecified

Foundation entity

Oral-facial-digital syndrome – http://id.who.int/icd/entity/1405407847

Part of: LD25.0: Oromandibular-limb anomaly syndrome › LD25: Syndromes with face or limb anomalies as a major feature › 20: Developmental anomalies