Greig cephalopolysyndactyly – malformed ears
Clin Genet
24:257–265, 1983
Hereditary gelsolin amyloidosis (AGel amyloidosis) – cutis laxa
(floppy ears), corneal lattice dystrophy, cranial and peripheral
polyneuropathy
BJD 152:250–257, 2005
Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu
syndrome)
Hypertelorism–microtia–clefting syndrome (Bixler syndrome)
J Med Genet 19:387–388, 1982
Incontinentia pigmenti – ear anomalies
JAAD 47:169–187, 2002
Johnson–McMillin syndrome – autosomal dominant, facial
nerve palsy, hearing loss, hyposmia, hypogonadism, microtia,
alopecia
Bolognia p.859, 2003
Juvenile hyaline fibromatosis (infantile systemic hyalinosis) –
nodular perianal lesions, ears, lips, gingival hypertrophy,
hyperpigmentation, flexion contractures of joints, osteolytic
defects, stunted growth
Ped Derm 18:400–402, 2001;
Dermatology 190:148–151, 1995; Ped Derm 11:52–60, 1994;
ear nodules
Int J Paediatr Dent 6:39–43, 1996
Kabuki makeup syndrome – short stature, distinct face (long
palpebral fissures, eversion of the lower eyelids, sparse arched
lateral eyebrows, prominent (large ears, earlobes) 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
KID syndrome – keratosis, ichthyosis, deafness syndrome –
fixed orange, symmetrical hyperkeratotic plaques of scalp, ears,
and face with perioral rugae; aged or leonine facies;
erythrokeratoderma-like; later hyperkeratotic nodules develop
Ped Derm 17:115–117, 2000; Ped Derm 13:105–113, 1996
Laband syndrome (hereditary gingival fibromatosis) – soft, large
floppy ears; bulbous soft nose, gingival fibromatosis; absent
nails; atrophic distal phalanges, hyperextensible joints,
hepatosplenomegaly, hypertrichosis, mental retardation
Ped
Derm 10:263–266, 1993; J Otol Pathol Med 19:385–387, 1990;
Oral Surg Oral Med Oral Pathol 17:339–351, 1964
Lacrimo-auriculo-dento-digital (LADD) syndrome –
cup-shaped ears, hearing loss, nasolacrimal duct obstruction,
hypodontia, enamel dysplasia, digital malformations
Eur J
Pediatr 146:536–537, 1987; J Med Genet 24:94–95, 1987;
J Pediatr 83:438–444, 1973
Langer–Gideon syndrome (trichorhinophalangeal syndrome,
type II) – large ears
Am J Med Genet 19:113–119, 1984
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; J Dermatol 25:341–343, 1998; Am J Med 60:447–456,
1976; AD 107:259–261, 1973
Leprechaunism (Donohue syndrome) – large ears
Ann Genet
30:221–227, 1987
Lumpy scalp syndrome – autosomal dominant; irregular scalp
nodules, deformed pinnae, rudimentary nipples
Clin Exp
Dermatol 15:240, 1989; BJD 99:423–430, 1978
Mandibulofacial dysostosis, microtia, talipes, agenesis of the
patellae
Birth Defects 11:39–50, 1975
MAUIE syndrome – micropinnae, alopecia, ichthyosis, and
ectropion
JAAD 37:1000–1002, 1997
Maxillofacial dysostosis – minor ear abnormalities
J Med Genet
14:355–358, 1977; X-linked Am J Med Genet 21:137–142, 1985
MC/MR syndrome with multiple circumferential skin creases –
multiple congenital anomalies including high forehead,
elongated face, bitemporal sparseness of hair, broad eyebrows,
blepharophimosis, bilateral microphthalmia and microcornea,
epicanthic folds, telecanthus, broad nasal bridge, puffy cheeks,
microstomia, cleft palate, enamel hypoplasia, micrognathia,
microtia with stenotic ear canals, posteriorly angulated ears,
short stature, pectus excavatum, inguinal and umbilical hernias,
scoliosis, hypoplastic scrotum, long fingers, overlapping toes,
severe psychomotor retardation with hypotonia; resembles
Michelin tire baby syndrome
Am J Med Genet 62:23–25, 1996
Melnick–Needles syndrome – large ears
J Pediatr Orthoped
3:387–391, 1983
Mohr’s orofaciodigital syndrome – small ears
Rook
p.3015–3016, 1998, Sixth Edition
Multicentric reticulohistiocytosis – ear nodules
AD
140:919–921, 2004; Clin Rheumatol 15:62–66, 1996
Nager syndrome (preaxial acrofacial dysostosis) – low-set ears
Birth Defects 10:109–115, 1974
Neu–Laxova syndrome – large low-set ears; 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, 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
Neurofibromatosis type II – angiofibromas (pink–red papules)
grouped on the ear
AD 134:760–761, 1998
Noonan’s syndrome – webbed neck, short stature, malformed
ears, nevi, keloids, transient lymphedema, ulerythema
ophyrogenes, keratosis follicularis spinulosa decalvans
JAAD
46:161–183, 2002; Rook p.3016, 1998, Sixth Edition; J Med
Genet 24:9–13, 1987
Opitz BBB/G compound syndrome (oculo–genito–laryngeal
syndrome) – malformed ears
Am J Med Genet 28:303–309, 1987
Oto-onycho-peroneal syndrome (Pfeiffer’s syndrome) –
crumpled pinnae, aplasia of the nails and fibulae
Eur J Paediatr
138:137–320, 1982
Pallister–Killian syndrome – large ears
J Clin Dysmorphol
1:2–3, 1983
Palmoplantar keratoderma, large ears, sparse hypopigmented
scalp hair, frontal bossing
Ped Derm 19:224–228, 2002
Patau’s syndrome (trisomy 13) – abnormal helices, low-set
ears; parieto-occipital scalp defects, loose skin of posterior
neck, simian crease of hand, hyperconvex narrow nails,
polydactyly
Ped Derm 22:270–275, 2005; Rook p.3016, 1998,
Sixth Edition
PHACES syndrome
Post-axial acrofacial dysostosis – small malformed ears
J Pediatr 95:970–975, 1979
Potter sequence (oligohydramnios syndrome) – malformed ears
Syndromes of the Head and Neck; 1990, p.4–11.
Relapsing polychondritis – red, edematous painful ear;
collapsed ear
Medicine 55:193–216, 1976
Restrictive dermopathy – autosomal recessive, dysplastic low-
set ears; erythroderma at birth, with extensive erosions and
contractures; taut shiny skin; fetal akinesia, multiple joint
contractures, dysmorphic facies with fixed open mouth,
hypertelorism, pulmonary hypoplasia, bone deformities;
uniformly fatal
AD 138:831–836, 2002; Ped Derm 19:67–72,
2002; Ped Derm 16:151–153, 1999; AD 134:577–579, 1998;
AD 128:228–231, 1992
Reticulolinear aplasia cutis congenita of the face and neck – Xp
deletion syndrome, MIDAS (microphthalmia, dermal aplasia,
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