AMS is generally characterized by abnormal appearances of the skin, eyes, fingers, genitals, head and face. Infants with AMS will have thin, redundantly wrinkled skin and excessive facial creases; wide-set eyes with absent or severely underdeveloped eyelids and down-turned lower eyelids; and a wide, fish-like mouth that may be fused together at the corners. Other appearances of the face and head include: broad nasal bridge, wide, flared nostrils and thick and flared alae nasi (edges of the nostrils). Abnormalities can also be seen in the hands and fingers, as infants with AMS will also have webbed fingers with limited ability to flex and extend the fingers. Infants with AMS will also display small, rudimentary ears that are atypically low-set on the skull. Absence of the zygomatic bone is also possible. Skin may be dry and coarse, excessively wrinkled around the face and loose around the hands yet tight around the finger joints, leading to diminished use of the fingers. Genital defects may include: ambiguous genitalia, a displaced and/or atypically small penis (micropenis), an absent scrotum around the testes and undescended testicles. Finally, alopecia and thin, sparse hair are also frequently observed.
Ablepharon macrostomia syndrome
Laryngo-onycho-cutaneous syndrome
Malpuech facial clefting syndrome
Cleft Lip and Palate Association
Long face syndrome
Gastric atresia
Branchio-oculo-facial syndrome
Trismus pseudocamptodactyly syndrome