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389 Possible Causes for Inguinal Hernia, Macrocephaly, Round Face

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[] hernia, and joint contractures.[] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[]

  • Mucopolysaccharidosis

    hernia.[] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[] hernia, generally normal mental development with psychotic symptoms later in life, and death by age 25 years.[]

  • Aarskog-Scott Syndrome

    Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[] Genitourinary Manifestations 'shawl' scrotum (80%) cryptorchidism (75%) inguinal hernia (60%) 3.[] Abstract The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and[]

  • Kniest Dysplasia

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[] Findings include a short trunk, prominent and stiff joints, flattened face, eye abnormalities, deafness, inguinal hernias, hip dislocation, cleft palate, and talipes equinovarus[] The patient displayed macrocephaly with increased size of the neurocranium in all three dimensions.[]

  • Trisomy 12p

    Tre' was born with an inguinal hernia, missing nasal bridge bone, genital anomalies, short eyelids, an extra finger, tightness of limbs, and a short frame body.[] Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental[] The head may be unusually large (macrocephaly) and has been described as long from front to back (dolichocephaly). There may also be a broad forehead.[]

  • Cutis Laxa

    Autosomal dominant cutis laxa (ADCL) is a rare disorder that presents with lax skin, typical facial characteristics, inguinal hernias, aortic root dilatation and pulmonary[] , bluish discoloration of the whites of the eyes (blue sclera), and a triangular-shaped face with a prematurely-aged appearance.[] […] glycosylation, due to mutations in ATPase H transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly[]

  • Lenz-Majewski Syndrome

    , bluish discoloration of the whites of the eyes (blue sclera), and a triangular-shaped face with a prematurely-aged appearance.[] The ears are large and floppy, and frequently there is choanal atresia or stenosis, nasolacrimal duct obstruction, and, in boys, cryptorchidism and inguinal hernia.[] Affiliated tissues include bone , skin and tongue , and related phenotypes are macrocephaly and hypertelorism OMIM : 57 Lenz-Majewski hyperostotic dwarfism is a rare condition[]

  • Weaver Syndrome

    , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[] Hypertonia, hypotonia, psychomotor retardation, and hoarse, low-pitched voice, excess loose skin, umbilical and inguinal hernia, and inverted nipples are associated.[] A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported.[]

  • Robinow Syndrome

    Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[] We present a 1 month-old infant with Robinow syndrome and large inguinal hernia, undescended testes and micropenis mimicking penile agenesis.[] The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies.[]

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