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Absent toe

MedGen UID:
Concept ID:
Congenital Abnormality; Finding
Synonym: Absent toes
HPO: HP:0010760


Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. [from HPO]

Conditions with this feature

Child syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
The NSDHL-related disorders include: CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked condition that is usually male lethal during gestation and thus predominantly affects females; and CK syndrome, an X-linked disorder that affects males. CHILD syndrome is characterized by unilateral distribution of ichthyosiform (yellow scaly) skin lesions and ipsilateral limb defects that range from shortening of the metacarpals and phalanges to absence of the entire limb. Intellect is usually normal. The ichthyosiform skin lesions are usually present at birth or in the first weeks of life; new lesions can develop in later life. Nail changes are also common. The heart, lung, and kidneys can also be involved. CK syndrome (named for the initials of the original proband) is characterized by mild to severe cognitive impairment and behavior problems (aggression, attention deficit hyperactivity disorder, and irritability). All affected males reported have developed seizures in infancy and have cerebral cortical malformations and microcephaly. All have distinctive facial features, a thin habitus, and relatively long, thin fingers and toes. Some have scoliosis and kyphosis. Strabismus is common. Optic atrophy is also reported.
MedGen UID:
Concept ID:
Congenital Abnormality
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).
Acromesomelic dysplasia 2B
MedGen UID:
Concept ID:
Disease or Syndrome
Acromesomelic dysplasia-2B (AMD2B) is characterized by normal head and trunk, hypoplastic/dysplastic or absent fibulae, and severe hypoplastic/dysplastic hand/feet abnormalities. Mental development is normal (summary by Szczaluba et al., 2005).
Chromosome 17P13.3, telomeric, duplication syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Adams-Oliver syndrome 3
MedGen UID:
Concept ID:
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.

Professional guidelines


Islam S, Biswas PK, Saha S, Sayem A, Khan MMA
Int Arch Occup Environ Health 2023 Aug;96(6):903-917. Epub 2023 May 13 doi: 10.1007/s00420-023-01978-5. PMID: 37178233
Woodside JC, Light TR
J Hand Surg Am 2016 Jan;41(1):135-43; quiz 143. Epub 2015 Aug 6 doi: 10.1016/j.jhsa.2015.06.114. PMID: 26254946
Roberton DM, Cabral DA, Malleson PN, Petty RE
J Rheumatol 1996 Jan;23(1):166-70. PMID: 8838527

Recent clinical studies


Smith RW, Joanis TL, Maxwell PD
Foot Ankle 1992 Sep;13(7):367-77. doi: 10.1177/107110079201300701. PMID: 1427525


Smith RW, Joanis TL, Maxwell PD
Foot Ankle 1992 Sep;13(7):367-77. doi: 10.1177/107110079201300701. PMID: 1427525


Smith RW, Joanis TL, Maxwell PD
Foot Ankle 1992 Sep;13(7):367-77. doi: 10.1177/107110079201300701. PMID: 1427525

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