Schneiderman Prelims Vol-I. qxd

MODERATE
Aagenaes syndrome (hereditary cholestasis with lymphedema) –
autosomal recessive; lymphedema of legs due to congenital
lymphatic hypoplasia; pruritus, growth retardation 
Textbook
of Neonatal Dermatology, p.334, 2001
Acrodermatitis enteropathica or acquired zinc deficiency –
stunted growth in infant with vesiculobullous dermatitis of
hands, feet, periorificial areas 
Ped Derm 19:426–431, 2002;
AD 116:562–564, 1980; Acta DV (Stockh) 17:513–546, 1936
Alagille syndrome – xanthomas of palmar creases, extensor
fingers, nape of neck; growth retardation, delayed puberty
Ped Derm 22:11–14, 2005
Atopic dermatitis
Barber–Say syndrome – autosomal dominant, X-linked
JAAD 48:161–179, 2003
Begeer syndrome – cataracts, deafness, short stature, ataxia,
polyneuropathy 
Clin Dysmorphol 4:283–288, 1995
Berlin syndrome – no vellus hairs; mottled pigmentation and
leukoderma, flat saddle nose, thick lips, fine wrinkling around
the eyes and mouth (similar to Christ–Siemens ectodermal
dysplasia); stunted growth, bird-like legs, mental retardation
Dermatologica 123:227–243, 1961
Borrone dermatocardioskeletal syndrome – autosomal
recessive or X-linked; gingival hypertrophy, coarse facies, late
eruption of teeth, loss of teeth, thick skin, acne conglobata,
osteolysis, large joint flexion contractures, short stature,
brachydactyly, camptodactyly, mitral valve prolapse, congestive
heart failure 
Ped Derm 18:534–536, 2001
Buschke–Ollendorf syndrome – with or without precocious
puberty 
Ped Derm 11:31–34, 1994; AD 106:208–214, 1972
Cardio-facio-cutaneous syndrome – xerosis/ichthyosis,
eczematous dermatitis, alopecia, growth failure (short stature),
hyperkeratotic papules, ulerythema ophryogenes, seborrheic
dermatitis, CALMs, nevi, keratosis pilaris 
Ped Derm 17:231–234,
2000; JAAD 28:815–819, 1993; AD 129:46–47, 1993; Eur J
Pediatr 150:486–488, 1991; JAAD 22:920–922, 1990
CHARGE syndrome – short stature, coloboma of the eye, heart
anomalies, choanal atresia, somatic and mental retardation,
genitourinary abnormalities, ear anomalies, primary
lymphedema 
Ped Derm 20:247–248, 2003
Chronic granulomatous disease – short stature, low weight 
Ped
Derm 21:646–651, 2004
Chronic infantile neurological cutaneous articular syndrome
(CINCA) (Neonatal onset multisystem inflammatory disorder
(NOMID)) – urticarial rash at birth, arthropathy, uveitis, mental
retardation, short stature 
AD 136:431–433, 2000; Eur J Ped
156:624–626, 1997; J Pediatr 99:79–83, 1981
Congenital cataracts, sensorineural deafness, hypogonadism,
hypertrichosis, gingival hyperplasia, short stature 
Clin
Dysmorphol 4:283–288, 1995
Congenital ichythyosis, hypogonadism, small stature, facial
dysmorphism, scoliosis, and myogenic dystrophy 
Ann Genet
42:45–50, 1999
Congenital ichthyosis, retinitis pigmentosa, hypergonadotropic
hypogonadism, small stature, mental retardation, cranial
dysmorphism, abnormal electroencephalogram 
Ophthalmic
Genet 19:69–79, 1998
Corneodermatoosseous syndrome – autosomal dominant;
premature birth; diffuse PPK; photophobia, corneal dystrophy,
distal onycholysis, brachydactyly, short stature, medullary
narrowing of digits, dental decay 
Curr Prob Derm 14:71–116,
2002; Am J Med Genet 18:67–77, 1984
Costello syndrome – warty papules around nose and mouth,
legs, perianal skin; loose skin of neck, hands, and feet, thick
palmoplantar surfaces, hypoplastic nails, short stature,
craniofacial abnormalities 
Am J Med Genet 82:187–193, 1999;
JAAD 32:904–907, 1995; Am J Med Genet 41:346–349, 1991;
Aust Paediat J 13:114–118, 1977
Cross–McKusick–Breen syndrome (oculocerebral syndrome
with hypopigmentation) – autosomal recessive; albino-like
hypopigmentation, silver-gray hair, microphthalmos, opaque
cornea, nystagmus, spasticity, mental retardation; post-natal
growth retardation 
J Pediatr 70:398–406, 1967
Cutis laxa 
J Med Genet 24:556–561, 1987
Darier’s disease 
Rook p.3261, 1998, Sixth Edition
DeBarsy syndrome – autosomal recessive progeroid syndrome;
cloudy corneas, mental retardation, athetoid movements,