Nasal alar colobomas, mirror hands and feet, and talipes
J Bone Jt Surg 52:367–370, 1970
Neu–Laxova syndrome – variable presentation; mild scaling
to harlequin ichthyosis appearance; ichythosiform scaling,
increased subcutaneous fat and atrophic musculature,
generalized edema and mildly edematous feet and hands,
absent nails; microcephaly, intrauterine growth
retardation,
limb contractures, low-set ears, sloping forehead, short neck;
small genitalia, eyelid and lip closures, syndactyly,
cleft lip
and palate, micrognathia; autosomal recessive; uniformly fatal
Ped Derm 20:25–27,78–80, 2003; Curr Prob Derm
14:71–116, 2002; Clin Dysmorphol 6:323–328, 1997;
Am J Med Genet 35:55–59, 1990; Am J Med Genet
13:445–452, 1982
Nevoid basal cell carcinoma syndrome
JAAD 53:S256–259,
2005; JAAD 11:98–104, 1984
Oculo-dento-osseous (oculo-dento-digital) dysplasia – sparse
scalp hair, eyebrows and eyelashes sparse or absent, small
closely set sunken eyes, small mouth, enamel hypoplasia
producing yellow teeth, syndactyly, camptodactyly, iris
anomalies, hypertelorism
J Pediatr 63:69–75, 1963
Opitz trigonocephaly syndrome (Smith–Lemli–Opitz syndrome) –
syndactyly of 2nd and 3rd toes
BJD 138:885–888, 1998; Am J
Dis Child 129:1348, 1975
Oral–facial–digital syndrome type I (Papillon–Leage syndrome) –
X-linked dominant; short
upper lip, hypoplastic ala nasi, hooked
pug nose, hypertrophied labial frenulae, bifid or multilobed
tongue with small tumors within clefts, clefting of hard and soft
palate, teeth widely spaced, trident hand or brachydactyly,
syndactyly, or polydactyly; hair dry and brittle, alopecic,
numerous milia of face, ears, backs of hands, mental retardation
Ped Derm 9:52–56, 1992
Oro-acral syndrome – microglossia to aglossia,
cleft palate
Oto-palato-digital syndrome
Pallister–Hall syndrome
Am J Med Genet 7:75–83, 1980
Pfeiffer syndrome – syndactyly, craniosynostosis, broad great
toes, pre-auricular tag, gingival hypertrophy
Z Kinderheilkd
90:301–320, 1964
Pili torti, defective teeth, webbed fingers
JAAD 46:301–303, 2002
Poland’s chest wall deformity – breast and pectoralis muscle
hypoplasia; absence of axillary hair, ipsilateral syndactyly,
dermatoglyphic abnormalities
Clin Exp Dermatol 25:308–311,
2000; Plast Reconstr Surg 99:429–436, 1997
Polydactyly and syndactyly
Popliteal pterygium syndrome –
autosomal dominant; bilateral
popliteal pterygia, intercrural pterygium, hypoplastic digits,
valgus or varus foot deformities, syndactyly, cryptorchidism,
inguinal hernia, cleft scrotum, lower lip pits, mucous membrane
bands, eyelid adhesions
J Med Genet 36:888–892, 1999; Int J
Pediatr Otorhinolaryngol 15:17–22, 1988
Postaxial acrofacial dysostosis
J Pediatr 95:970–975, 1979
Postaxial polydactyly–dental–vertebral syndrome
J Pediatr
90:230–235, 1977
Proteus syndrome
Bolognia p.930, 2003
Rabenhorst syndrome – syndactyly of 2nd and 3rd toes
Rapp–Hodgkin hypohidrotic ectodermal dysplasia – autosomal
dominant; alopecia of wide area
of scalp in frontal to crown
area, short eyebrows and eyelashes, coarse wiry sparse
hypopigmented scalp hair, sparse body hair, scalp dermatitis,
ankyloblepharon, syndactyly, nipple anomalies, cleft lip and/or
palate; nails narrow and dystrophic, small stature, hypospadius,
conical teeth and anodontia or hypodontia; distinctive facies,
short stature
JAAD 53:729–735, 2005; Ped Derm 7:126–131,
1990; J Med Genet 15:269–272, 1968
Reticulolinear aplasia cutis congenita of the face and neck – Xp
deletion syndrome, MIDAS (microphthalmia, dermal aplasia,
sclerocornea), MLS (microphthalmia and linear skin defects),
and Gazali–Temple syndrome (syndactyly); lethal in males;
residual
facial scarring in females, short stature, organ
malformations
BJD 138:1046–1052, 1998
Robert’s syndrome (pseudothalidomide syndrome)
Rosselli–Gulinetti syndrome – autosomal recessive,
hypohidrosis, fine, dry, sparse scalp hair, dystrophic nails and
teeth, cleft lip and palate, syndactyly, defects of external
genitalia
J Plast Surg 14:190–204, 1961
Russell–Silver syndrome – large head, short stature, premature
sexual development, CALMs, clinodactyly, syndactyly of toes,
triangular face
JAAD 40:877–890, 1999; J Med Genet
36:837–842, 1999
Saethre–Chotzen syndrome – partial syndactyly of second and
third fingers, craniosynostosis,
low-set frontal hairline, facial
asymmetry, ptosis, brachydactyly, other skeletal anomalies
Rook p.426, 1998, Sixth Edition; Dtsch Z Nerverneilkd
117:533–555, 1931
Sataki syndrome
J Pediatr 79:104–109, 1971
Say–Poznanski syndrome
Pediatr Radiol 17:93–96, 1987
Scalp–ear–nipple syndrome – autosomal dominant; aplasia
cutis congenita of the scalp, irregularly shaped pinna,
hypoplastic nipple, widely spaced teeth, partial syndactyly
Am J
Med Genet 50:247–250, 1994
Sclerosteosis
Ann Intern Med 84:393–397, 1976
Short rib–polydactyly syndrome
Am J Roentgenol 114:257–263,
1972
Smith–Lemli–Opitz syndrome – autosomal recessive;
occasional immunodeficiency; hypospadias, cryptorchidism,
hypospadias partial syndactyly of 2nd and 3rd toes, polydactyly,
dysmorphic facies with anteverted nostrils,
cleft palate,
congenital heart disease, severe photosensitivity,
7-dehydrocholesterol reductase deficiency (defect in cholesterol
metabolism)
BJD 153:774–779, 2005; NEJM 351;2319–2326,
2004; JAAD 41:121–123, 1999; BJD 141:406–414, 1999; Am J
Med Genet 66:378–398, 1996; Clin Pediatr 16:665–668, 1977;
J Pediatr 64:210–217, 1964
Symphalangism–brachydactyly syndrome with conductive
hearing impairment
Syndactyly, congenital
Caputo p.172, 2000
Townes–Brocks syndrome
J Pediatr 81:321–326, 1972
Trauma
BJD 152:1083–1084, 2005
Triploidy syndrome
Syndromes of the Head and Neck, p.64,
1990
Trisomy 13 (Patau) syndrome
J Genet Hum 23:83–109, 1975
Varadi syndrome (polydactyly, cleft lip/palate, lingual lump,
cerebellar anomalies
J Med Genet 17:119–122, 1980
Waardenburg syndrome, type 3
Bolognia p.930, 2003
Zlotogora–Ogur syndrome – ectodermal dysplasia, syndactyly,
mental retardation, autosomal recessive
J Med Genet
24:291–293, 1987
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