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Flashcards in Dysmorphology Deck (29):

define dysmorphology

the scientific study of the structure and form of animal and plants.


when are congenital malformatlities more likely to be genetically when they are isolated or when they are numerous.

multiple malformations, dysmorphic and family history of similar problems.


what 3 methods are used in determining sysphorphology

gestalt- pattern of recognition
start at the top and then work down
absence of features and the presence of features


what dysmorphology does the 22q11.2 deletion cause

learning disabilities, Velopharyngeal insufficiency,
improper closing of the velopharyngeal sphincter, heart defects, hypocalcemia, seizures, immune deficiency and renal malformation, thin nose with no flare at the end.


what is the most common cause of achondroplasia

new mutation


is achondroplasia more commonly autosomal dominate or recessive

autosomal dominant.


what are the dysmorpholoical changes in achondroplasia

rhizomelic limb shoretning
short stature
foramen magnum compression and hydrocephalus
trident hand- angles between digits abnormal


what condition is commonly a result of imprinting problems

Beck with- Wiedemann.


what are the dysmorpholoical changes in Beck with- Wiedemann.

large tongue
ear pits and creases
red patches on the skin
exopthlos- weakness of the baby's abdominal wall where the umbilical cord joins it.
Hemihypertrophy- one side of the body or a part of one side is larger than the other.
neonatal hypoglycaemia
Increased risk of Wilms tumour (nephroblastoma)- malignant tumour of the kidney.


what is the comments chromosomal disorder

down syndrome


what are the dysmorpholoical changes in downs syndrome

learning difficulties, congenital heart disease, hypotonia (low muscle tone ) in neonates, single palmar crease, sandal gap, spots in eyes, cataracts, hearing impairments, hypothyroidism, leukaemia,
Atlanto- axial instability- excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or ligamentous abnormality.
Alzheimer’s disease- all people with Down syndrome get Alzheimer’s.


In whichtype of translocation for downs syndrome is recurrence huh and which is low
non disjunstion
robertsonian tanslocation

Non dis- junction translocation- the risk of reoccurrence is low.

Robertsowian translocation- the risk of reoccurrence is high.


what dysmorpholoigcal signs does kabuki present with

learning difficulties, congenital heart diseases, poor growth, eversion of eyelid, hearing impairment, cleft palate, premature breast development, persistent fetal finger pads.


what is Peutz-Jeghers syndrome

Gastrointestinal polyps
• Bleeding
• Obstruction- block bowel.


what cancer causes Pigmentation on and around lips (small brown dots).

Peutz-Jeghers syndrome


what malignancies is Peutz-Jeghers syndrome associated with

• Colorectal
• Gastric
• Pancreatic
• Breast
• Ovarian


what inheritance is treacher collins syndrome

Autosomal dominant.


what is the dysmorphic feature of treacher collins syndrome.

• Cleft palate.
• Hearing impairment.


what dysmorpholoical features does Waardenburg syndrome present with

• Sensorineural hearing impairment.
• Iris heterochromia- black line around pupil(difference in pupil coloration)
• Premature greying.
• White forelock.
• Areas of hypopigmentation.
• Congenital malformations-


what is the position of the mutation in williams syndrome

• 7q11 deletion.


what dysmorphologicla symptoms does will ams present with

• Learning difficulties
• “ Cocktail party speech”- can have a basic conversation without knowing they have the syndrome, only when you have a complex conversation can you tell.
Congenital heart disease.
o Supravascular aortic stenosis.
o Peripheral pulmonary artery stenosis.
• Hypercalcaemia.
• Struggle with spatial awareness.


Gestalts looks for patterns of abrnomality is which body parst

digits and hands and feet


what abnormalities are found in the Digits, Hands and feet

• Ectrodactly-missing thumb/ thumb abnormalities- associated with missing radius.
• Adducted thumb.
• Syndactly- 2 thumbs/fingers stuck together.
• Deep planter creases- key to trisomy 21.


what abnormalities are found in the ear

• Attached
• Lobes
• Pits.
• Creases.


what abnormalities are found in the lips

• Increased cupid’ bow (upper lip is more curved)- often teeth pop out.
• Thin lips.


SLO- Smith-Lemli-Opitz syndrome consists of what 3 features

• Microcephaly
• Tiny chin
• Developmental delay.


how to determine trisomy 21 from ear level in comparison to the eye level.

• Typically the eyes should be in the same plane.
• The ears should leave the head in this plane and hence 1/3 of the ear should be above the plane and 2/3 would be below.


what factor increases the risk of achondroplasia

increased paternal age


when are dysmorphologies best diagnosed

in children.