Beare–Stevenson syndrome – cutis gyrata (furrowed skin),
acanthosis nigricans, hypertelorism, swollen lips, swollen
fingers, prominent eyes, ear anomalies, and umbilical hernia
Ped Derm 20:358–360, 2003
Beckwith–Wiedemann syndrome – omphalocele or other
umbilical anomalies
Syndromes of the Head and Neck,
1990:323–328
Carpenter syndrome (acrocephalosyndactyly) – omphalocele
Am J Med Genet 28:311–324, 1987
Coffin–Siris syndrome – webbed neck, bifid scrotum, umbilical
and inguinal hernias
JAAD 46:161–183, 2002
Congenital total lipodystrophy (Lawrence–Seip syndrome
lipoatrophic diabetes; Berardinelli syndrome, Seip syndrome) –
umbilical hernia
; extreme muscularity and generalized loss of
body fat from birth, acanthosis nigricans, acromegalic features,
hyperinsulinemia (fasting and postprandial), early onset diabetes
mellitus or glucose intolerance, hypertriglyceridemia/low HDL-C
level, hirsutism, clitoromegaly
J Clin Endocrinol Metab
85:1776–1782, 2000; AD 91:326–334, 1965
Cornelia de Lange syndrome – umbilical hernia
Syndromes of
the Head and Neck, p.303, 1990
DeBarsey syndrome – umbilical hernia
Ped Derm 18:365–366,
2001
Dup (3q) syndrome – omphalocele
Birth Defects 14:191–217,
1978
Dyskeratosis congenita
Ehlers–Danlos syndrome type IX – umbilical hernia
Ped Derm
18:365–366, 2001
Elejalde syndrome (acrocephalopolydactylous dysplasia) –
omphalocele
Birth Defects 13:53–67, 1977
Goltz’s syndrome
Hunter’s syndrome – umbilical and inguinal hernias; reticulated
2–10-mm skin-colored papules over scapulae, chest, neck,
arms; X-linked recessive; MPS type II; iduronate-2 sulfatase
deficiency; lysosomal accumulation of heparin sulfate and
dermatan sulfate; short stature, full lips, coarse facies,
macroglossia, clear corneas (unlike Hurler’s syndrome),
progressive neurodegeneration, communicating hydrocephalus,
valvular and ischemic heart disease, lower respiratory tract
infections, adenotonsillar hypertrophy, otitis media, obstructive
sleep apnea, diarrhea, hepatosplenomegaly, skeletal
deformities (dysostosis multiplex), widely spaced teeth,
dolichocephaly, deafness, retinal degeneration
Ped Derm
21:679–681, 2004
I-cell disease (mucolipidosis II) – umbilical hernia
Helv Paediatr
Acta 35:85–95, 1980
Idaho syndrome – umbilical hernia; premature fusion of the
sagittal suture, micrognathia, anomalous pulmonary venous
return, anterior dislocation of the tibiae, contractures of PIP
joints
J Neurosurg 47:886–898, 1977
Lethal omphalocele and cleft palate
Hum Genet 64:99, 1983
Marshall–Smith syndrome – omphalocele
Syndromes of the
Head and Neck, p.340–342, 1990
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, hypotonia, pectus excavatum, inguinal and
umbilical hernias, scoliosis, hypoplastic scrotum, long fingers,
overlapping toes, severe psychomotor retardation, resembles
Michelin tire baby syndrome
Am J Med Genet 62:23–25, 1996
Menke gene variant – umbilical hernia
Ped Derm 18:365–366,
2001
Mucopolysaccharidoses (Hurler’s, Hurler–Schei, Sanfilippo,
Morquio, Maroteaux–Lamy, Sly syndromes) – umbilical hernias
Rook p.2624–2625, 1998, Sixth Edition
Occipital horn syndrome – umbilical hernia
Ped Derm
18:365–366, 2001
Olmsted syndrome – periumbilical fissured keratotic plaques
Pseudoxanthoma elasticum
Rieger syndrome (hypodontia and prmary mesodermal
dysgenesis of the iris) – failure of periumbilical skin to involute;
exomphalos
Br J Ophthalmol 67:529–534, 1983
Short stature, mental retardation, facial dysmorphism, short
webbed neck, skin changes, congenital heart disease – xerosis,
dermatitis, low-set ears, umbilical hernia
Clin Dysmorphol
5:321–327, 1996
Simpson–Golabi–Behmel syndrome – pre- and post-natal
overgrowth, large cystic kidneys, limb abnormalities, wide
mouth, cleft palate, midline facial clefts, umbilical hernia,
supernumerary nipples
Clin Genet 51:375–378, 1997
Sjögren–Larsson syndrome – verrucous hyperkeratosis of
flexures, neck, and periumbilical folds; mental retardation,
spastic diplegia, short stature, kyphoscoliosis, retinal changes,
yellow pigmentation, intertrigo – deficiency of fatty aldehyde
dehydrogenase
Chem Biol Interact 130–132:297–307, 2001; Am
J Hum Genet 65:1547–1560, 1999; JAAD 35:678–684, 1996
Stein–Leventhal syndrome – hypertrichosis of umbilicus
Trisomy 13 syndrome (Patau syndrome) – omphalocele
J Genet
Hum 23:83–109, 1975
TRAUMA
Hernia
AD 139:1497–1502, 2003; incarcerated
hernias – umbilical nodules
Ileoumbilical fistula – after surgery for Crohn’s disease
Dig Dis
Sci 24:316–318, 1979
Neonatal umbilical hemorrhage from slipped ligatures
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