Cleft
lip and palate, pili torti, malformed ears, partial syndactyly
of fingers and toes, mental
retardation
J Med Genet
24:291–293, 1987
Cleft palate, absent tibiae, preaxial polydactyly of the feet, and
congenital heart defect
Am J Dis Child 129:714–716, 1975
Cleft palate, dysmorphic facies, digital defects
Syndrome Ident
5:14–18, 1977
Cleft palate, microcephaly, short stature – large ears
Cleft uvula, preaxial and postaxial polysyndactyly, somatic and
motor retardation
Eur J Pediatr 130:47–51, 1979
Congenital onychodysplasia of the index fingers (COIF) (Iso
Kikuchi syndrome)
J Hand Surg 15A:793–797, 1990
Cornelia de Lange syndrome
Am J Med Genet 25:163–165,
1986
Craniofrontonasal syndrome
Birth Defects 15:85–89, 1979
Curry–Jones syndrome – streaks of atrophy with
craniosynostosis, preaxial polysyndactyly, agenesis of the
corpus callosum
Clin Dysmorphol 4:116–129, 1995
del (3p) syndrome
J Med Genet 21:307–310, 1984
Distal aphalangia, syndactyly, extra metatarsal, short stature,
microcephaly, borderline intelligence – autosomal dominant
Am
J Med Genet 55:213–216, 1995
Dubowitz
syndrome
Duplication of the eyebrows, stretchable skin and syndactyly
Ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome
(EEC syndrome) – syndactyly; split hand
Ped Derm
20:113–118, 2003
EEM syndrome
Bolognia p.930, 2003
Ellis–van Creveld syndrome
J Med Genet 17:349–356, 1980
Epidermal (sebaceus) nevus syndrome
Bolognia p.930, 2003
Epidermolysis bullosa – cicatricial junctional EB – scarring,
alopecia, syndactyly, contractures
JAAD 12:836–844, 1985;
recessive dystrophic EB
Epidermolysis Bullosa: Basic and
Clinical Aspects. New York:Springer, 1992:135–151
FG syndrome (unusual facies, mental retardation, congenital
hypotonia, imperforate anus)
Am J Med Genet 19:383–386,
1984
Filippi syndrome – short stature, microcephaly, characteristic face,
syndactyly, mental retardation
Genet Couns 4:147–151, 1993
Finlay–Marks syndrome (scalp–ear–nipple syndrome) – nipple
or
breast hypoplasia or aplasia, aplasia cutis congenita of scalp,
abnormal ears and teeth, nail dystrophy, syndactyly, reduced
apocrine secretion
Bolognia p.924, 2003
Fontaine syndrome (ectrodacytyly of the feet and cleft palate)
J Genet Hum 22:289–307, 1974
Fraser syndrome (cryptophthalmos–syndactyly syndrome)
Frontonasal malformation
Clin Genet 10:214–217, 1976
Frydman syndrome – autosomal recessive; prognathism,
syndactyly, short stature, blepharophimosis, weakness of
extraocular and frontal muscles, synophrys
Clin Genet
41:57–61, 1992
Goltz’s syndrome (focal dermal hypoplasia) – asymmetric
linear and reticulated streaks of atrophy and telangiectasia;
yellow–red nodules; raspberry-like
papillomas of lips,
perineum, acrally, at perineum, buccal mucosa; linear alopecia,
xerosis; scalp and pubic hair sparse and brittle; short stature;
asymmetric face; syndactyly, polydactyly; ocular, dental, and
skeletal abnormalities with osteopathia striata of long bones
Cutis 53:309–312, 1994; J Dermatol 21:122–124, 1994;
JAAD 25:879–881, 1991
Hemihyperplasia–multiple lipomatosis syndrome – extensive
congenital vascular stain, compressible blue nodule, multiple
subcutaneous nodules, hemihypertrophy, syndactyly, thickened
but not cerebriform soles, dermatomyofibroma
Soc Ped Derm
Annual Meeting, July 2005; Am J Med Genet 130A:111–122,
2004; Am J Med Genet 79:311–318, 1998
Hidrotic ectodermal dysplasia
AD 113:472–476, 1977
Holoprosencephaly syndrome
Holt–Oram syndrome (Hand–heart syndrome type I)
Hydrolethalus syndrome
Am J Med Genet 27:935–942, 1987
Hypohidrosis and diabetes insipidus (Fleck syndrome) –
hypohidrosis, hypotrichosis, diabetes insipidus, syndactyly,
coloboma, disturbed hematopoiesis
Dermatol Wochenschr
132:994–1007, 1955
Hypomelanosis of Ito/pigmentary mosaicism
Bolognia p.930, 2003
Kabuki makeup syndrome – short stature, distinct face (long
palpebral fissures, eversion of the lower eyelids, sparse arched
lateral eyebrows, prominent malformed ears), cutis laxa,
hyperextensible joints, syndactyly,
fetal finger pads with
abnormal dermatoglyphics, mental retardation
JAAD S247–251,
2005; Am J Med Genet 94:170–173, 2000; Am J Med Genet
31:565–589, 1988; J Pediatr 105:849–850, 1984; J Pediatr
99:565–569, 1981
Kaufman–McKusick syndrome – hydrometrocolpos, postaxial
polydactyly, congenital heart defect
Eur J Pediatr 136:297–305,
1981
Kindler’s syndrome – webbing due to congenital blistering
AD 140:939–944, 2004; AD 1487–1490, 1996
Klippel–Trenaunay syndrome
Bolognia p.930, 2003
Koraxitrachitic syndrome – self-healing collodion baby; heals
with mottled reticulated atrophy; alopecia, absent eyelashes and
eyebrows, conjunctival pannus, hypertelorism, prominent nasal
root,
large mouth, micrognathia, brachydactyly, syndactyly of
interdigital spaces
Am J Med Genet 86:454–458, 1999
LADD syndrome Eur J Pediatr 146:536–537, 1987
Lenz–Majewski syndrome
Radiology 149:129–131, 1983
LEOPARD (Moynahan’s) syndrome – CALMs, granular cell
myoblastomas, steatocystoma multiplex, small penis,
hyperelastic skin, low-set ears, short webbed neck,
short stature, syndactyly
JAAD 46:161–183, 2002;
JAAD 40:877–890, 1999; Am J Med 60:447–456, 1976
Lichen planus, ulcerative – webbing of toes
J R Soc Med
79:363–365, 1986
Macrocephaly – cutis marmorata telangiectatica congenita
syndrome (macrocephaly, cutis marmorata, hemangioma, and
syndactyly syndrome) – macrocephaly, hypotonia,
hemihypertrophy, hemangioma, cutis marmorata telangiectatica
congenita, internal arteriovenous malformations, syndactyly,
joint laxity, hyperelastic skin, thickened subcutaneous tissue,
developmental delay, short stature, hydroocephalus
Ped Derm
16:235–237, 1999; Genet Couns 9:245–253, 1998; Am J Med
Genet 70:67–73, 1997
Mal de Meleda – autosomal dominant, autosomal recessive
transgrediens with acral erythema in glove-like distribution;
syndactyly
Dermatology 203:7–13, 2001; AD 136:1247–1252,
2000; J Dermatol 27:664–668, 2000; Dermatologica 171:30–37,
1985
Meckel syndrome – microcephaly, microphthalmia, congenital
heart defects, postaxial polydactyly, polycystic kidneys, cleft
lip/palate
J Med Genet 8:285–290, 1971
Nail–patella syndrome (Fong’s syndrome, hereditary
onychoosteodysplasia, Turner–Kieser syndrome) – autosomal
dominant; webbing between digits and/or within popliteal
fossa, cloverleaf iris (Lester iris); LMX1B
mutation
(dorsal/ventral patterning)
JAAD 49:1086–1087, 2003
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