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Diagnosis of genetic diseases at children

GENETICALLY CAUSED DISEASES

Disease

Symptom complex

302 Adrenoleykodistrofiya

Decrease in intelligence
Absent-mindedness
Vision disorder
Attacks of spasms
Low activity of enzyme lignotseroil - To-ligase

303 Acrodynia

Lag in intellectual developments
Acrimony
Pinkish shade of finger-tips of hands and nose
Recurrent desquamation of an epithelium on palms and soles
Itch and upper and lower extremity pains
Photophobia
Alopecia

304 Alcoholic syndrome of a fruit

Lag in physical and intellectual development
Pathological change of the person (narrow palpebral fissures, mikrotnatiya, thin upper lip)
Pathological changes of small joints of extremities, restriction of movements
Septal heart disease

305 Bruton's illness

Decrease in body resistance in relation to bacterial infections
Preservation of resistance to viral infections
Lack of reaction from lymph nodes, a liver and a spleen in the period of acute diseases
Lack of a hypertrophy of almonds, adenoides
Neutropenia
Agammaglobulinemia
Decrease in synthesis of all fractions of immunoglobulins

306 Verdinga-Hoffman's illness

The disease begins at chest age
Slackness of the lower extremities, poverty, movements
Decrease in a muscle tone, quickly extends from below up
Areflexia
The sensitive sphere is not changed, intellectual development normal

307 Wilson-Konovalov's illness

Anorexia
Hepatomegalia
Splenomegaly
Jaundice
Tremor
Dysarthtia
Existence of rings of Kayzsra-Fleyshner

308 Illness to Awnless wheat

The progressing hepatomegalia
Lag in physical development
Emergence of a hypoglycemia even at short starvation

309 Down syndrome

Mongoloid section of eyes
Disproportion of a trunk and extremities
Korotkopalost, the bent little finger
Cross fold in a palm
Decrease in intelligence
Decrease in a muscle tone
Malformations of cardiovascular system

310 Krabbe's illness

Hyperexcitability
Delay of psychomotor development
Hyperesthesia
Hyperthermia
The progressing decrease in sight and hearing
Convulsive syndrome

311 An illness of Prenglya-Burnevil

Nevoid educations on skin and mucous
Lag in intellectual development
Epileptiform attacks
Sometimes return arrangement of internals

312 Sterdzha-Weber's illness

Existence of a unilateral hemangioma on a face
Lag in intellectual development
Convulsive syndrome
Development of glaucoma is possible
On the roentgenogram of a skull — the calcification centers in the place of intracranial angiomas

313 Inborn dyskeratosis to Engmana-Kolya

It is observed at boys
Initial symptoms appear at the age of 5 — 12
Dacryagogue
Poikiloderma
Leukoplakia
Dystrophy of nails
Palmar and bottom hyperkeratosis

314 Galactosemia

Vomiting
Diarrhea
Hepatomegalia
Cholestatic jaundice
Existence of a galactose in urine

315 Gargoilizm

Disproportional development
Hypertelorism
Gepatosplenomegaliya
Cataract
Cardiomegaly
Lag in intellectual development
The increased allocation with urine of chondroitinsulphuric acid

316 Lipodystrophy

 

I Atrophy of a hypodermic fatty tissue

High growth
Xanthopathy
Hirsutism
Gepatosplenomegaliya

317 Progeria (Getchinsona-Gilford's syndrome)

Sharp lag in physical development
Senile type of the patient
Mask-like face
Thinning, dryness, rugosity of skin
Arterial hypertension
Hypercholesterolemia
Generalized atherosclerotic defeat of vessels

318 Antli-Biksler's syndrome

Craniostenosis of coronal and lambdoid seams
Brachycephaly
Hypoplasia of a middle part of the person
Ptosis
Atresia of a postnaris
Humeroradial synostosis
Defect of an interventricular partition
Endocardium fibroelastosis

319 Aper's syndrome

Turricephaly
Syndactylia of brushes and feet
Exophthalmos
Anti-Mongoloid section of eyes
Oligophrenia

320 Bekhchet's syndrome

Recurrent aphthous and ulcer process on mucous oral cavities, urinogenital bodies, eyes
Fever
Recurrent arthritises
Thrombophlebitises
Colitis

321 Bogart-Oz's syndrome

The disease arises on the third year of life
General keratosis
Dystrophy of nails

Shortening of extremities
Akralny disturbance of blood circulation
Asymmetry of the person
Lag in intellectual development

 

322 Wiedemann's syndrome - - Bekvita

Giantism
Macroglossia
Umbilical hernia
Hypoplasia of genitalias at boys
Vistseromegaliya
Anomalies of auricles

323 Williams-Beurena's syndrome

Face of the elf
Looseness of joints
Flat-footedness
Nadklapanny stenosis of an aorta
Hypercalcemia

324 Wolf's syndrome - - Girshtorna

Hypotrophy
Nanocephalia
Hypertelorism
The small, low located auricles
Expansion of an upper lip, sky
Convulsive syndrome
Inborn heart disease is possible

325 Tungsten syndrome

Not diabetes mellitus
Diabetes mellitus
The amaurosis caused by an atrophy of optic nerves
Sensonevralny deafness

326 Gangart's syndrome

Delay of growth since the second year of life
Delay of ossification
Senile features
Adiposagenital syndrome
Lag in sexual development

327 Goldenkhar's syndrome

 

 

 

1 Epibulbarny lipodermoid
2 Colobomas of an upper eyelid

3 Underdevelopment of auricles

4 Backbone pathology

5 Inborn heart disease

328 Syndrome of the Loach

 

 

 

 

 

1 Focal atrophy of skin of a trunk, buttocks and extremities

2 Malformations of distal departments of extremities

3 Colobomas of an iris of the eye

4 Asymmetry of a trunk and extremities

329 Syndrome to Debra-Mari

 

1 Dwarfish growth

2 Hypogenitalism

3 Obesity

4 Decrease in temperature

5 Disturbance of water secretory function of kidneys

6 The intelligence is normal

330 Di George's syndrome

 

1 Convulsive syndrome

2 Infections respiratory and urine -

the removing ways

3 Kandidomikoz

4 Often inborn heart diseases and large vessels

5 Decrease in lymphocytes in peripheral blood

6 Hypocalcemia

331 Carpenter's syndrome

 

 

1 Craniostenosis

2 Open arterial channel

3 Defect of an interventricular partition

332 Kleynfelter's syndrome

 

1 Evnukhopodobny constitution

2 Underdevelopment of testicles

3 Gynecomastia

4 Some lag in intellectual development

5 Sex chromatin of female type

333 Klippelya-Trenone's syndrome

 

 

1 Emergence of clinical symptomatology of a disease after the birth or on the first year of life

Extremity angiomatosis in the form of a varicosity, cave aneurisms or hemangiomas
The trophic affected extremity ulcers 
Increase in length of the affected extremity
Feeling of weight in the affected extremity, pain at an exercise stress
The unilateral, superficially located angiomas on mucous to an oral cavity, face skin

334 A syndrome of Knippelya-Feylya

Lag in intellectual and physical development
Short neck
Restriction of the movement of the head
Defect of an interventricular partition

335 Cornelia de Lanzh's syndrome

Prenatal hypoplasia
Mental retardation
Nanocephalia
Symmetric shortening of extremities
Short neck
Hypertrichosis
Inborn heart disease, is more often — defect of an interventricular partition

336 A syndrome of Kronkhayt-Canada

Xanthopathy
Alopecia
Atrophy of nails
Diarrhea
Malabsorption of various degree of manifestation
Polyposes of thin and thick guts

337 Larsen's syndrome

Disturbance of development of extremities
Convex forehead
Hypertelorism

338 Luzhen's syndrome

Blue scleras
Inborn heart disease
The shout reminding a cat's cry
Delay of intellectual and physical development
Nanocephalia
Anti-Mongoloid section of eyes
Micrognatia

339 Syndrome Leopard

Growth delay
Multiple birthmarks
Hypertelorism
Surditas
Valve stenosis of a pulmonary artery
ECG — conductivity disturbance

340 Littla-Lassyuer's syndrome

Cicatricial alopecia of pilar part of the head
Existence of the disseminated rashes of giperkeratotichesky papular elements
Hair loss in axillary poles and on a pubis
Emergence of pigmentation

341 Louis Bar syndrome (an ataxy - a teleangiectasia)

Emergence of symptoms of a disease after 1 year
Unstable shaky gait
Teleangiectasias on a conjunctiva, mucous a mouth, a hard and soft palate, lobes of ears, on skin of a trunk, upper and lower extremities
Nevus pigmentosus on skin with sites of a depigmentation, a scleroderma, a keratosis
Signs of a dizembriogenez
Lag in intellectual development
The raised susceptibility to infections

343 Syndrome "Mumebry"

Lag in growth
Hypomyotonia
Increase of intracranial pressure
Hepatomegalia
Heart failure
Pigmental retinopathy

344 nalipatella syndrome (hereditary onikhoosteoplaziya)

Multiple bone anomalies, including with absence or a hypoplasia of a patella
Eye symptoms (ptosis century, change of pigmentation of an iris of the eye, etc.)
Proteinuria
Microhematuria

345 Syndrome Nunan

Nanism
Hypertelorism
Low growth of hair on a neck
Skin folds on a neck
Epikait
Ptosis
Chin hypoplasia
Right-hand inborn heart diseases
Cryptorchism at boys

346 Patau's syndrome

Mental retardation
Bad increase in weight
Surditas
Convulsive syndrome
Splitting of an upper lip and sky
Polydactylia
Inborn heart disease

347 Poland's syndrome

Aplasia or partial lack of a big pectoral muscle
Brush syndactylia on the same party
Shortening of a hand of the same party
Lack of a papilla of the breast on the party of defeat

348 Roben's syndrome

Micrognatia
Pseudo-macroglossia
Glossoptosia
Dome-shaped sky
Post-alveolar crevice of a hard and soft palate

349 Rubenstein-Teybi syndrome

Mental retardation
Wide distal phalanxes of fingers
Growth inhibition
Anti-Mongoloid section of palpebral fissures
Hypertelorism
Cryptorchism

350 Syndrome of Siemens

Lack of secretion of sweat — an anhidrosis
Hypotrichosis
Anodontia
Disturbance of development of eyes and ears
Delay of physical and mental development

351 Smith-Lemli-Opitz's syndrome

 

Nanocephalia
Wolf mouth
Syndactylia on feet
Polydactylia
Hypospadias

Often inborn heart diseases

352 Sotos's syndrome

The accelerated growth from the moment of the birth till 4 — 5
Big brushes and feet with a reinforced layer of a hypodermic fatty tissue
Hypertelorism
Anti-Mongoloid section of eyes
The mandible acts forward
Awkwardness of gait
Lag in intellectual development
Level of somatotropic hormone in blood normal

353 Syndrome of a trisomy 22/47, 22+/

Delay of intellectual and physical development
Nanocephalia
Micrognatia
Skin folds before auricles
Epikant
Deformation of the lower extremities
Inborn heart disease

354 Syndrome of a trisomy D

Microphthalmia or anophthalmia
Labium leporium
Wolf mouth
Polydactylia
Deformation of a skull
Sharp lag in intellectual development
Malformations of internals

355 Syndrome of a trisomy E

Nanocephalia
Polydactylia
Congenital dislocations of a hip
Sharp lag in intellectual development
Malformations of internals

356 Forney's syndrome

Surditas
Dwarfish growth
Skeleton dysplasia
Merge of bodies of cervical vertebrae and bones of a wrist
Insufficiency of the mitral valve

357 Syndrome
Franchesketti

Anti-Mongoloid section of eyes
Hypoplasia of malars
Hypoplasia of jaws
Coloboma century
Bird's person
Anomaly of auricles
Macrostomia

358 Syndrome
Holt Oram

Disturbance of development of upper extremities
Deformation, hypoplasia, three - a falangizm of the first fingers
Disturbance of bones of a wrist and wrist
Inborn heart disease
Intellectual development normal

359 Tselverger's syndrome

Delay of mental development
The expressed hypotonia
Hepatomegalia with disturbance of a functional condition of a liver
Degeneration of kidneys
Absence in pyroxysom of sick enzymes of oxidation of fatty acids

360 Syndrome of Tsinssera-Koula-Engmana (inborn dyskeratosis)

Arises at boys aged from 5 till 15 flyings
Existence of a hyperkeratosis in the head, the trunk, extremities which is combined with mesh pigmentation

Leukokeratosis of a mucous membrane of an oral cavity
Hypogenitalism
Conjunctivitis, the increased lachrymation
Neuro and thrombocytopenia

 

361 Shershevsky-Turner's syndrome

Alate folds of a neck
Low growth of hair in a nape
Short neck
Lag in growth
Disturbance of development of secondary sexual characteristics
Often aorta coarctation
Sex chromatin of man's type

362 The Matte syndrome - Leventalya

Amenorrhea
Hirsutism
Obesity
Bilateral polycystosis of ovaries

363 Syndrome of Shturge-Vebera-Krabbe (entsefalotrigeminalny angiomatosis)

Skin angiomas from the moment of the birth with preferential unilateral localization on a face
Inborn glaucoma on the party of angiomas
Neurologic symptomatology (convulsive attacks, pyramidal symptoms — increase of tendon jerks, a hemiparesis on the party opposite to an angioma of the person)
Malformations (not fusion of handles of vertebrae, hernias etc.)

364 Edwards's syndrome

 

Mental retardation
Small body weight at the birth
Micrognatia
The deformed auricles

Deformation of fingers of hands and legs 6
Anomalies of heart, kidneys, digestive tract

365 Ellisa-Van-Kreveld's syndrome

Symmetric shortening of extremities
Polydactylia
Growth disorder, structures of nails, teeth
Alopecia
Inborn heart disease

366 Yadassona-Lewandowski's syndrome

Giperkeratotichesky plaques on elbow and knee joints, are more rare — on buttocks
Palmar and bottom hyperkeratosis
Paronychia
Language leukokeratosis

367 Fenilketonuriya

Insufficient pigmentation
The progressing oligophrenia
Periodically arising convulsive syndrome
Lowering of arterial pressure
"Mouse" smell of sweat
The increased content of phenylalanine and products of its exchange in blood and urine

368 Chondrodystrophia

Lag in growth
Existence of a disproportion between the normal length of a trunk and short extremities
Rastopyrennost of fingers
Lag of development of front part of a skull from brain
Normal intellectual development

According to Ostropolets S. S., V. N. Beet, Diagnostic syndromes of diseases of children's age.

 
"Diagnosis of diseases of the broken digestion and absorption at children   Diagnosis of diseases of a digestive tract at children"