Schneiderman Prelims Vol-I. qxd

SYNDROMES
Ablepharon macrostomia – absent eyelids, ectropion, abnormal
ears, rudimentary nipples, dry redundant skin, macrostomia,
ambiguous genitalia 
Hum Genet 97:532–536, 1996
Apert’s syndrome – excess skin wrinkling of forehead 
Cutis
52:205–208, 1993
Beare–Stevenson cutis gyrata syndrome – localized redundant
skin of scalp, forehead, face, neck, palms, and soles,
acanthosis nigricans, craniofacial anomalies, anogenital
anomalies, skin tags, and large umbilical stump 
Am J Med
Genet 44:82–89, 1992
C syndrome (Opitz trigonocephaly syndrome) – nevus
flammeus; trigonocephaly, unusual facies with wide alveolar
ridges, multiple frenula, limb defects, visceral anomalies,
redundant skin, mental retardation, hypotonia 
Am J Med Genet
9:147–163, 1981
Cardio-facio-cutaneous syndrome (NS) – xerosis/ichthyosis,
eczematous dermatitis, alopecia, growth failure, hyperkeratotic
papules, ulerythema ophryogenes, seborrheic dermatitis,
CALMs, nevi, keratosis pilaris, autosomal dominant, patchy or
widespread ichthyosiform eruption, sparse scalp hair and
eyebrows and lashes, congenital lymphedema of the hands,
redundant skin of the hands, short stature, abnormal facies,
cardiac defects 
Ped Derm 17:231–234, 2000; JAAD 28:815–819,
1993; AD 129:46–47, 1993; JAAD 22:920–922, 1990
Congenital fascial dystrophy – rippled skin 
JAAD 21:943–950,
1989
Costello syndrome – warty papules around nose and mouth,
legs, perianal skin; loose skin of neck, hands, and feet, thick,
redundant palmoplantar surfaces, hypoplastic nails, short
stature, craniofacial abnormalities 
Eur J Dermatol 11:453–457,
2001; Am J Med Genet 82:187–193, 1999; JAAD 32:904–907,
1995; Am J Med Genet 47:176–183, 1993; Aust Paediat J
13:114–118, 1977
Cutis laxa – autosomal dominant; mild disease of late onset 
Ped
Derm 21:167–170, 2004
Cutis laxa type I – autosomal recessive; diaphragmatic hernia,
gastrointestinal and genitourinary diverticulae, pulmonary
emphysema, cardiac abnormalities 
Ped Derm 21:167–170, 2004
Cutis laxa type II – autosomal recessive; pre and postnatal
growth retardation, delayed motor development, delayed closure
of large fontanelle, congenital hip dislocation, bone dysplasias,
parallel strips of redundant skin of back 
Ped Derm 21:167–170,
2004
Cutis laxa type III – autosomal recessive; severe mental
retardation, corneal clouding 
Ped Derm 21:167–170, 2004
Cutis laxa – X-linked recessive (occipital horn syndrome;
formerly Ehlers–Danlos type IX) – lysyl oxidase deficiency,
skeletal dysplasias, joint hypermobility, chronic diarrhea,
obstructive uropathy 
Ped Derm 21:167–170, 2004
Cutis verticis gyrate-mental deficiency syndrome 
Am J Med
Genet 38:249–250, 1991
Ehlers–Danlos syndrome – atrophic scars over knees;
redundant skin on palms and soles; redundant folds around
eyes 
Rook p.2034, 1998, Sixth Edition
Gingival fibromatosis–hypertrichosis syndrome
(Byars–Jurkiewicz syndrome) – autosomal dominant;
fibroadenomas of breast; hypertrichosis of face, upper
extremities, midback; redundant skin 
Ped Derm 18:534–536,
2001; J Pediatr 67:499–502, 1965
Hypomelanosis of Ito – excess skin folds 
J Med Genet
25:809–818, 1988
Laron dwarfism