Birth Disorder Information Directory - G

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G

Galactosemia (Galactose-1-Phosphate Uridyltransferase Deficiency)

List of Sites

Galactosialidosis

List of Sites

Galactosylceramidosis

See Krabbe Disease

Gangliosidosis

GM 1

See Landings Syndrome

GM 2

See Tay Sachs Disease & Sandhoff Disease

GAPO Syndrome

See Growth Retardation-Alopecia-Pseudoanodontia-Optic Atrophy (GAPO) Syndrome

Garcia Lurie Syndrome

See XK (Aprosencephaly) Syndrome

Gardner Silengo Wachtel Syndrome

See Genitopalatocardiac Syndrome

Gardners Syndrome

Gargoylism

See Mucopolysaccharidosis, Type I

Gastroschisis

Gastroschisis - Pediatric Pathology (Includes a Photo)
A boy with gastroschisis
Another boy with gastroschisis
gastroschisis (one rather graphic picture, but it's very small and you don't have to look at it if you don't want to :)
Newborn full term male with an anterior abdominal wall defect diagnosed on prenatal ultrasound (Includes 1 graphic picture and an x-ray)
Newborn with an anterior abdominal wall defect with no covering hernia sac and the umbilical cord attaching normally, adjacent to the defect

Gaucher's Disease

List of Sites

Gee Herter Disease

See Celiac Disease/Sprue

Gee Thaysen Disease

See Celiac Disease/Sprue

Geleophysic Dysplasia

Genee-Wiedemann Syndrome

See Acrofacial Dysostosis, Atypical Postaxial Type

Genes Syndrome

See Camera Lituania Cohen Syndrome

Genitopalatocardiac Syndrome (Gardner Silengo Wachtel Syndrome, Male Pseudohermaphroditism with Micrognathia, Cleft Palate, and Conotruncal Cardiac Defect)

Genoa Syndrome

See Camera Lituania Cohen Syndrome

Gerhardt Syndrome (Laryngeal Abductor Paralysis; Vocal Cord Dysfunction, Familial)

Geroderma Osteodysplastica

See Walt Disney Dwarfism

Gershinibaruch Leibo Syndrome (Aplasia Cutis with High Myopia and Cone-Rod Dysfunction)

APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION

Giant Cell Chondrodysplasia

See Atelosteogenesis, Type I

Giant Ganglionic Hyperplasia

See Castleman Disease

Gilbert('s) Syndrome (Gilbert Lereboullet Syndrome, Hyperbilirubinemia I, Icterus Intermittens Juvenalis, Meulengracht's Disease, Unconjugated Benign Bilirubinemia)

List of Sites

Gilbert Dreyfus Syndrome

See Reifenstein Syndrome

(Hutchinson-)Gilford (Progeria) Syndrome (Premature Senility Syndrome, Progeria of Childhood, Souques Charcot Syndrome)

Gillespie Syndrome (Aniridia-Cerebellar Ataxia-Oligophrenia Syndrome)

Gitelman('s) Syndrome

Glass Chapman Hockley Syndrome (Craniosynostosis with Brachydactyly)

Craniosynostosis brachydactyly

Glaucoma

Type 1

Open Angle

A (Glaucoma, Hereditary Juvenile; Glaucoma, Primary Open Angle, Juvenile-Onset)

GLAUCOMA 1, OPEN ANGLE, A; GLC1A

Globoid Cell Leukodystrophy

See Krabbe('s) Disease

Glucose-6-Phosphatase Deficiency

See Von Gierke Disease

Glucosylceramidosis

See Gaucher Disease

Glutaric Acidemia

List of Sites

Gluten-Sensitive Enteropathy

See Celiac Disease/Sprue

Glycerol Kinase Deficiency (Hyperglycerolemia)

HYPERGLYCEROLEMIA

Glycoasparaginase Deficiency

See Aspartylglycosaminuria

Glycogen Storage Disease

List of Sites

Glycogenosis

Fanconi Type

See Fanconi Bickel Syndrome

Glycolicaciduria

See Hyperoxaluria

GM1 Gangliosidoses

Golabi Rosen Syndrome

See Simpson Golabi Behmel Syndrome, Type 1

Goldenhar (Gorlin) Syndrome (Oculo[or Facio]-Auriculo-Vertebral Dysplasia/Anomaly/Spectrum, First and Second Brachial Arch Syndrome, Hemifacial Microsomia)

Goltz (Gorlin) Syndrome (Focal Dermal Hypoplasia)

FOCAL DERMAL HYPOPLASIA; DHOF

Gonadal Agenesis

GONADAL AGENESIS
XY

Syndrome

See Testicular Regression Syndrome

Gonadal Dysgenesis

45,X or XO

See Turner Syndrome

XX

PREMATURE OVARIAN FAILURE, AUTOSOMAL RECESSIVE
with Deafness

GONADAL DYSGENESIS, XX TYPE, WITH DEAFNESS

XY

GONADAL DYSGENESIS, XY TYPE
Female Type

See Swyer Syndrome

with Associated Anomalies

GONADAL DYSGENESIS, XY TYPE, WITH ASSOCIATED ANOMALIES

Goodman Camptodactyly (Camptodactyly with Fibrous Tissue Hyperplasia and Skeletal Dysplasia)

Gorham Stout Disease (Cystic Angiomatosis of Bone, Diffuse; Osteolysis, Massive)

CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE

Gorlin Chaudry Moss Syndrome (Craniofacial Dysostosis Genital Dental Cardiac Anomalies)

Gottron's Syndrome (Acrogeria, Familial; Acromicria, Familial)

Graham Boyle Troxell Syndrome (Cystic Hamartoma of Lung and Kidney)

Cystic hamartoma of lung and kidney

Grand Kaine Fulling Syndrome (Cerebroretinal Vasculopathy)

Granulomatous Disease

List of Sites

Grebe Dysplasia

See Chondrodysplasia, Grebe Type

Greenfield Disease

See Metachromatic Leukodystrophy

Greig Syndrome (Cephalopolysyndactyly)

Griscelli Disease

See Chediak-Higashi-Like Syndrome

Grix Blankenship Peterson Syndrome (Craniofacial and Osseous Defects Mental Retardation)

Craniofacial and osseous defects mental retardation

Grosse Syndrome (Cranioacrofacial Syndrome)

Growth Hormone Deficiency (Hypopituitarism, Hypopituitary Dwarfism, Panhypopituitarism, Pituitary Dwarfism, Primordial Dwarfism)

List of Sites

Growth Retardation-Alopecia-Pseudoanodontia-Optic Atrophy (GAPO) Syndrome

GAPO SYNDROME

Gruber Syndrome

See Meckel (Gruber) Syndrome

Guizar Vasquez Luengas Syndrome (Corneal Dystrophy with Epithelial and Short Stature)

Guizar Vasquez Sanchez Manzano Syndrome (Unusual Facies with Pectus Carinatum and Joint Laxity)

Unusual facies pectus carinatum joint laxity

Gunal Seber Basaran Syndrome (Dacryocystitis-Osteopoikilosis)

Dacryocystitis osteopoikilosis

Günther disease

See Congenital Erythropoietic Porphyria

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