Abruzzo–Erickson syndrome (cleft palate, eye cloboma, short
stature, hypospadias)
J Med Genet 14:76–80, 1977
Achondroplasia
Syndromes of the Head and Neck p.171–175,
1990
Acraniofacial dysostosis
Am J Med Genet 29:95–106, 1988
Acrogeria (Gottron’s syndrome) – micrognathia, atrophy of tip of
nose, atrophic skin of distal extremities with telangiectasia, easy
bruising, mottled pigmentation or poikiloderma of extremities,
dystrophic nails
BJD 103:213–223, 1980
Acromesomelic dysplasia
Birth Defects 10:137–146, 1974
Acro-osteolysis (Hajdu–Cheney syndrome)
J Periodontol
55:224–229, 1984
Adenine deaminase deficiency – autosomal recessive;
disproportionate short stature; short limb skeletal dysplasia
type 1 (bowed femurs)
Am J Med Genet 66:378–398, 1996
Aganglionic megacolon and cleft lip/palate
J Craniofac Genet
Dev Biol 1:185–189, 1981
Albright’s hereditary osteodystrophy
(pseudohypoparathyroidism)
Ergeb Inn Med Kinderheilkd
42:191–221, 1979
Ataxia telangiectasia
Rook p.2095,1998, Sixth Edition; Ann
Intern Med 99:367–379, 1983
Autosomal recessive blepharophimosis, ptosis, V-esotropia,
syndactyly, and short stature
Clin Genet 41:57–61, 1992
Braegger syndrome – proportionate short stature, IUGR,
ischiadic hypoplasia, renal dysfunction, craniofacial anomalies,
postaxial polydactyly, hypospadias, microcephaly, mental
retardation
Am J Med Genet 66:378–398, 1996
Bloom’s syndrome (congenital telangiectatic erythema and
stunted growth) – autosomal recessive; blisters of nose and
cheeks; slender face, prominent nose; facial telangiectatic
erythema with involvement of eyelids, ear, hand and forearms;
bulbar conjunctival telangiectasias; stunted growth; CALMs,
clinodactyly, syndactyly, congenital heart disease, annular
pancreas, high-pitched voice, testicular atrophy; no neurologic
deficits
Ped Derm 22:147–150, 2005; Curr Prob Derm
14:41–70, 2002; Ped Derm 14:120–124, 1997; JAAD
17:479–488, 1987; AD 114:755–760, 1978; Clin Genet
12:85–96, 1977; Am J Hum Genet 21:196–227, 1969;
Am J Dis Child 116:409–413, 1968; AD 94:687–694, 1966;
Am J Dis Child 88:754–758, 1954
Cardio-facio-cutaneous syndrome (Noonan–like short stature
syndrome) (NS) – xerosis/ichthyosis, eczematous dermatitis,
growth failure, hyperkeratotic papules, ulerythema ophryogenes,
seborrheic dermatitis, CALMs, nevi, keratosis pilaris, autosomal
dominant, patchy or widespread ichthyosiform eruption, sparse
curly short scalp hair and eyebrows and lashes, hemangiomas,
acanthosis nigricans, congenital lymphedema of the hands,
redundant skin of the hands, short stature, abnormal facies,
cardiac defects
JAAD 46:161–183, 2002; Ped Derm
17:231–234, 2000; JAAD 28:815–819, 1993; AD 129:46–47,
1993; JAAD 22:920–922, 1990; port wine stain Clin Genet
42:206–209, 1992
Cartilage–hair hypoplasia (metaphyseal chondrodysplasia of
McKusick) (disproportionate short stature; short limb skeletal
dysplasia) – dwarfism, mild leg bowing, short sparse, lightly
colored hair; some with total baldness, immune defects
Eur J
Pediatr 155:286–290, 1996; Eur J Pediatr 142:211–217, 1993;
Am J Med Genet 41:371–380, 1991; Bull Johns Hopkins
Hosp 116:285–326, 1965
CINCA syndrome (chronic infantile, neurological, cutaneous, and
articular syndrome)
Scand J Rheumatol Suppl 66:57–68, 1987
Cleft lip/palate, posterior keratoconus, short stature, mental
retardation, genitourinary anomalies
J Med Genet 19:332–336,
1982
Cleft lip/palate and pituitary dysfunction
Syndromes of the Head
and Neck p.781, 1990
Cleft palate, macular coloboma, short stature, skeletal
abnormalities
Br J Ophthalmol 53:346–349, 1969
Cleft palate, microcephaly, large ears, short stature (Say
syndrome)
Humangenetik 26:267–269, 1975
Cleft palate and sensorineural hearing loss
Helv Paediatr
Acta 38:267–280, 1983
Cleidocranial dysplasia
Syndromes of the Head and Neck
p.249–253, 1990
Cockayne syndrome – xerosis with rough, dry skin, anhidrosis,
erythema of hands, hypogonadism; autosomal recessive; short
stature, facial erythema in butterfly distribution leading to
mottled pigmentation and atrophic scars, premature aged
appearance with loss of subcutaneous fat and sunken eyes,
canities, mental deficiency, photosensitivity, disproportionately
large hands, feet, and ears, ocular defects, demyelination
Ped
Derm 20:538–540, 2003; Am J Hum Genet 50:677–689, 1992;
J Med Genet 18:288–293, 1981; birdheaded dwarfism Rook
p.3261, 1998, Sixth Edition
Coffin–Lowry syndrome – X-linked inheritance; straight
coarse hair, prominent forehead, prominent supraorbital
ridges, hypertelorism, large nose with broad base, thick lips
with mouth held open, large hands, tapering fingers, severe
mental retardation; loose skin easily stretched, cutis
marmorata, dependent acrocyanosis, varicose veins
Clin Genet 34:230–245, 1988; Am J Dis Child
112:205–213, 1966
Congenital erythropoietic porphyria
Ped Derm 20:498–501, 2003
Conradi–Hunermann syndrome – X-linked dominant
ichthyosis (Happle’s syndrome) – chondrodysplasia punctata,
ichthyosis, cataract syndrome; collodion baby or ichthyosiform
erythroderma; Blaschko pattern of erythroderma and scaling;
plantar hyperkeratosis; resolves with time to reveal swirls of
fine scale, linear hyperpigmentation, follicular atrophoderma
of arms and legs, cicatricial alopecia; mutation in gene
encoding 8–7 sterol isomerase; collodion baby or generalized
ichthyosiform erythroderma; Blaschko erythroderma and
scaling; palmoplantar keratoderma; follicular atrophoderma
and cicatricial alopecia in adults; short stature; asymmetric
shortening of limbs; chondrodysplasia punctata, cataracts
Eur J Dermatol 10:425–428, 2000; Hum Genet 53:65–73,
1979; skeletal defects with short stature severe autosomal
rhizomelic type; X-linked recessive variant
Rook p.1520,
1998, Sixth Edition; chondrodysplasia punctata, X-linked
recessive – with ichthyosis
Ped Derm 18:442–444, 2001;
rhizomelic form Syndromes of the
Head and Neck
p.190–191, 1990
Cornelia de Lange syndrome – cutis marmorata, short stature,
specific facies, hypertrichosis of forehead, face, back,
shoulders, and extremities, synophrys; long delicate eyelashes,
skin around eyes and nose with bluish tinge
Rook p.428, 1998,
Sixth Edition; JAAD 37:295–297, 1997
Cross syndrome – autosomal recessive; gingival fibromatosis,
microphthalmia with cloudy corneas, mental retardation,
spasticity, growth retardation, athetosis, hypopigmentation,
silvery gray hair
Ped Derm 18:534–536, 2001; J Pediatr
70:398–406, 1967
Cutis laxa
Syndromes of the Head and Neck p.424, 1990
DeBarsey syndrome – cutis laxa with psychomotor retardation,
corneal clouding, growth retardation
Eur J Pediatr 144:348–354,
1985
DeSanctis–Cacchione syndrome – dwarfism, gonadal
hypoplasia, mental deficiency, microcephaly, xeroderma
pigmentosum
Ghanan p.199, 2002, Second Edition
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