Total 45 clinical symptoms reported for Adams-Oliver syndrome 1
Abnormality of the lower limb |
An abnormality of the leg.
Synonyms:Abnormality of the leg; Abnormality of the lower limb; Lower limb deformities |
Very frequent |
Abnormality of the upper limb |
An abnormality of the arm.
Synonyms:Abnormality of the arm; Abnormality of the upper limb |
Very frequent |
Absent hand |
The total absence of the hand, with no bony elements distal to the radius or ulna.
Synonyms:Absent hand; Acheiria |
Very frequent |
Absent toe |
Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues.
Synonyms:Absent toe; Aplasia of toe |
Very frequent |
Aplasia cutis congenita |
A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs.
Synonyms:Absence of part of skin at birth; Congenital absence of skin; Cutis aplasia |
Very frequent |
Aplasia/Hypoplasia of the skin |
Synonyms:Absent/small skin; Absent/underdeveloped skin |
Very frequent |
Calvarial skull defect |
A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year.
Synonyms:Cranial defect; Skull defect |
Very frequent |
Cutis marmorata |
A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather.
|
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Sparse hair |
Reduced density of hairs.
Synonyms:Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth |
Very frequent |