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CLINICAL MANIFESTATIONS OF HEREDITY ANOMALIES

CLINICAL MANIFESTATIONS OF HEREDITY ANOMALIES. By: Mahdi Bijanzadeh MD, PhD. bijanzadeh-m@ajums.ac.i. Clinical manifestations of heredity anomalies. At the end of this session, you should answer this questions: 1. What is disease vs. syndrome? 2. What is variance in expression?

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CLINICAL MANIFESTATIONS OF HEREDITY ANOMALIES

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  1. CLINICAL MANIFESTATIONSOF HEREDITY ANOMALIES By: Mahdi Bijanzadeh MD, PhD. bijanzadeh-m@ajums.ac.i

  2. Clinical manifestations of heredity anomalies At the end of this session, you should answer this questions: 1. What is disease vs. syndrome? 2. What is variance in expression? 3. Where “wide anterior fontanel” can be found? 4. What is low set ear? 5. What is underlying disorder of Simian crease?

  3. A 4 years old boy has come with: - cleft lip - simian crease - flat nasal bridge What is your diagnosis?

  4. Basis of approach Gather information: family history, physical examination. Non-specificity of individual defects: with rare exceptions, a clinical diagnosis of a malformation cannot be made on the basis of a single defect. Heterogeneity: similar phenotypes may result from different etiologies. Variance in expression: except for MR and small stature, it is unusual to find a given anomaly in 100% of patients with the same etiologic syndrome. Etiology: 50% no specific disorder, a small% structural chromosomal abnormality.

  5. General terminology Disease: a condition of living body or of one of its parts that impairs normal functioning and is typically manifested by distinguishing signs and symptoms. Syndrome: a group of consistent and recognizable abnormalities, often with a known underlying cause. Non-syndromic disease: refers to disorder that appears without other abnormalities: deafness, MR., … Major anomaly: has an adverse outcome on function or social acceptability of the individual. Minor anomaly: neither medical nor cosmetic importance.

  6. Incidence Spontaneous first-trimester abortion: 50% of all human pregnancies before implantation. 15% before 12 w. Paterns: 80-85% with gross structural abnormalities. 50-60% ch., submicros. or single gene abnormalities. Perinatal mortality: 28w. gestation-first week of life. 80% due to genetic factors: 1% recurrence risk. Newborn infants: 2-5% major and 10% minor anomalies. Major poor prognosis: 25% dying, 25% with mental or physical disability, 50% fair or good view after treatment. Childhood mortality: 1st year: 25%, 1-10y:20%, 10-15y: 7.5%

  7. Morphogenesis: genetics & environmental factors: Dysmorphic syndrome, congenital abnormality, birth :defect Single abnormalities: Malformation Disruption Deformation Dysplasia Multiple abnormalities: Sequence Syndrome (Dysmorphology) Association: VATER

  8. HEAD 1. Macrocephally 2. Microcephally 3. Wide Anterior Fontanel 4. Small Anterior Fontanel 5. Craniosynostosis 6. Torticollis 7. Frontal Bossing 8. Coarse face

  9. Macrocephalia or megalocephaly Definition: head is larger than normal: circumference of head > two SD. above average for child's age, sex, race, and period of gestation. The fontanel of the newborn is wide, but facial features are usually normal.

  10. Frequent & occasional in: Achondroplasia Hunter Syndrome Mucopolysaccharidosis Deletion 11q Syndrome Fragile X Syndrome Neurofibromatosis Syndrome, type I Osteogenesis Imperfecta Syndrome

  11. Microcephalia Definition: circumference of head < two SD. smaller than average for person's age and sex. Usually because brain has not developed properly or has stopped growing.

  12. Frequent & occasional in: Angelman Syndrome Bloom Syndrome Deletion 3p, 4p, 5p, 18p, 11q, 13q, 18q, 22q11.2 Syndromes Roberts-SC phocomelia Trisomy 13, 18 Syndromes X-linked -Thalassemia/Mental Retardation (ATR-X) S. Fanconi Pancytopenia Myotonic Dystrophy Syndrome Prader-Willi Syndrome Xeroderma pigmentosa Syndrome

  13. Wide Anterior Fontanel The fontanelle allows skull to deform during birth to ease its passage through birth canal and for expansion of brain after birth. Definition: enlarged fontanelles are larger than expected soft spots for age of a baby.

  14. Frequent & occasional in: Achondroplasia Congenital hypothyroidism Down syndrome Normal variation Familial macrocephaly Rickets Increased intracranial pressure

  15. Small Anterior Fontanel Definition: Fontanel closure that occurs before three months of age.

  16. Craniosynostosis Definition: causes one or more cranial sutures on a baby's head to close earlier than normal. The sutures between these bony plates normally close by time the child is 2 or 3 years old.

  17. Frequent & occasional in: *Idiopathic *hyperthyroidism, hypophosphatasia, rickets, or hyperparathyroidism. *More than 50 syndromes: Apert Syndrome Carpenter Syndrome Chondrodysplasia Punctata, X-linked Dominant type Deletion 11q, 13q Syndrome Duplication 3q Syndrome Williams Syndrome Abnormal brain development

  18. Torticollis Definition: a twisted neck in which head is tipped to one side, while chin is turned to the other.

  19. Frequent & occasional in: - As part of overall clinical picture of Parkinson disease. - Congenital causes, such as pseudotumor of infancy, hypertrophy or absence of cervical musculature, spina bifida, hemivertebrae, and Arnold-Chiari syndrome. - Acquired: Otolaryngologic causes, Esophageal reflux, Syrinx with spinal cord tumor, Traumatic causes, Juvenile rheumatoid arthritis and …

  20. Frontal Bossing Definition: an unusually prominent forehead, sometimes associated with a heavier than normal brow ridge.

  21. Frequent & occasional in: - Acromegaly - Basal cell nevus syndrome - Congenital syphilis - Cleidocranial dysostosis - Crouzon syndrome - Hurler syndrome - Pfeiffer syndrome - Use of antiseizure drug: Trimethadione during pregnancy

  22. Coarse face Definition: a constellation of facial features that includes: - large, bulging head - prominent scalp veins - "saddle-like, flat bridged with broad, fleshy tip“ nose - large lips and tongue - small, widely spaces and/or malformed teeth - hypertrophic alveolar ridges of gums

  23. Head tend to be longer than normal from front to back, with a bulging forehead, because earlier than normal or premature fusion of skull bones in affected individual.

  24. Frequent & occasional in: - Acromegaly - Coarse face- hypotonia- constipation - Congenital hypothyroidism - Some types of X-linked MR. - Some types of Mucopolysaccharidosis

  25. HAIR Sparse hair Hirsutism Punched- out lesion Low posterior hair line

  26. ORAL CAVITY A. size 1. Microstomia 2. Macrostomia B. Shape 1. Depressor anguli oris 2. Hemi facial Microsomia C. Lips 1. Prominent lips 2. Thin lips 3. Cleft lips (lateral /median) D. Palate E. Tongue (Macroglossia) F. Mandible (Micrognathia)

  27. EYES 1. Blepharoptosis 2. Deep set eyes 3. Hypotelorism /Hypertelorism 4. Telecanthus Epicanthal fold or epicanthus 5. Up-slanting /Down-slanting palpebral fissure 6. Short palpebral fissure 7. Coloboma 8. Synophrys (unibrow )

  28. Blepharoptosis Definition: is a drooping or falling or abnormal relaxation of upper or lower eyelid.

  29. Frequent & occasional in: Congenital blepharoptosis: - Isolated localized myogenic dysgenesis levator palpebrae superioris. - Very small number of genetic or chromosomal defects, and neurologic dysfunctions: Blepharophimosis Syndrome: short palpebral fissures, congenital ptosis, epicanthus inversus & telecanthus.  Congenital third cranial nerve palsy.  Congenital Horner Syndrome: mild ptosis, miosis, anhidrosis, and heterochromia.  Marcus Gunn jaw-winking syndromeAcquired blepharoptosis

  30. Deep set eyes Definition: Deep-set eyes are eyes that appear to be placed deeply in the skull.

  31. Frequent & occasional in: Angelman Syndrome Chondrodysplasia MR. Chromosomal del./trisomy/ monosomy

  32. Hyperthelorism Definition: abnormally increased distance between two organs or parts. Ocular hypertelorism, orbital hypertelorism increase in interorbital distance, often associated with cleidocranial or craniofacial dysostosis and sometimes with mental deficiency.

  33. Frequent & occasional in: Edwards Syndrome (Trisomy 18) 1q21 duplication Syndrome Basal Cell Nevus Syndrome DiGeorge Syndrome Loeys-Dietz Syndrome Apert Syndrome Craniofrontonasal dysplasia  Neurofibromatosis Cri du chat Syndrome 

  34. Hypothelorism Definition: abnormally decreased distance between two eyes. Frequent & occasional in: Trisomy 13 Syndrome Oculodentodigital Syndrome Williams Syndrome

  35. EARS 1. Size 2. Posteriorly rotated ears 3. Low set ears 4. Major external ear defects

  36. NOSE 1. Thin 2. Broad 3. Flat nasal bridge 4. Nose with single nostril

  37. Flat nasal bridge The nasal bridge: upper, bony part of the nose, overlying the nasal bones. A lower or higher than average nasal bridge can be a sign of various genetic disorders: A flat nasal bridge can be a sign of (Trisomy 21), Fragile X Syndrome, and/or Fetal Alcohol Syndrome. A widened nasal bridge can be seen with dystonia canthorum.

  38. Frequent & occasional in: - C syndrome- Often chromosomal deletion, trisomy, tetrasomy, duplication, partial duplication and monosomy.

  39. NECK 1. Short 2. Excessive skin fold

  40. SKIN 1. Café-au-lait lesion 2. Hypo pigmented lesion 3. Multiple Irregular pigmented lesion 4. Hemangiomata 5. Edema of hands & feet 6. Thick (Ichthyotic or coarse) skin 7. Photosensitive dermatitis 8. Cutis marmorata (livedoreticularis)

  41. Café-au-lait lesion, spot, macule Definition: is a “milky coffee” and refers to its light-brown .color. Also called "giraffe spot" or "coast of Maine spot" Frequent in: Neurofibromatosis type I Fanconi anemia Ataxia telangectasia Hunter syndrome Bloom syndrome

  42. Hypo-pigmented lesion Frequent in: Generalized: Oculocutaneous albinism (OCA) Griscelli, Elejalde syndrome Menkes syndromes Local: Piebaldism Vitiligo

  43. Hemangiomata Definition: a benign tumor, usually in infants or children, made up of newly formed blood vessels and resulting from malformation of angioblastic tissue of fetal life.

  44. CHEST 1. Small thoracic cage (Thanatophoricdysplasia , Asphyxiating thoracic cage.) 2. Sternum - Short - Malformed

  45. ABDOMEN 1. Prune – belly appearance 2. Omphalocele 3. Gastroschisis 4. Hernias

  46. GENITALIA 1. Hypogenitalism 2. Genital Ambiguity 3. Virilization ANUS 1. Atresia 2. Displacement

  47. SPINE 1. NTD 2. Hair tufts / sinuses

  48. EXTREMITIES A / Size 1. Relatively long 2. Relatively short 3. Unequal extremities B/ Shape 1. Rhizomelia 2. Mesomelia 3. Acromelia C/ Hands / Feet 1. Lines: Simian crease 2. Sandal sign 3. Increased separation of 1st & 2nd toe 4. Enlargement 5. Rocker - bottom feet: vertical talus 6. Club foot (talipes foot)

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