Phenotype.

Minor anomalies
Vocabulary

Hyperkeratosis: excessive keratinization of some

parts of the body / palms, soles , extensor surfaces of the
joints (thickened skin )
Vitiligo: focal lack of pigment in the epidermis
Albinism: lack of pigment in the skin, hair, iris
Dermai aplasia/ aplasia cutis: irregular or oval defects
of the skin in the absence of hair and underlying tissues
(subcutaneous fat , muscle )
Teleangiectasias: are small dilated capillaries near
the surface of the skin or mucous membranes. They can
develop anywhere on the body but are commonly seen
on the face around the nose, cheeks, and chin.
Pterygium: a winglike structure (webbing of the skin)
at the joints which causes a lack of muscle movement,
may be on the neck, axillae, and popliteal, antecubital.
Lentigo: multiple freckles
Anonychia: the complete absence (anonychia) or
abnormally developed fingernails and toenails.
 Pachyonychia: Excess keratin in nail beds and
thickening of the nails
Alopecia: focal or total absence of hair
Hypertrychosis: excessive hair growth
Hirsutism: Excessive Hairiness on Women
Hypotrychosis: Hair reduction
Scull
Brachycephaly/Bicoronal synostosis is the result of
premature fusion of the coronal sutures. Increased cross-
head size with a relative decrease length.
Dolichocephaly: Apparently increased antero-
posterior length of the head compared to width, the head
is longer.
Scaphocephaly / Sagittal Synostosis: results from the
premature closure of the sagittal suture. The sagittal
suture, runs from front to back and in the anterior
portion merges with the "soft-spot" of the child's
skull. The appearance of a child with Scaphocephaly is
such that the head is elongated from front to back and
narrowed from side to side.
Plagiocephaly: a diagonal asymmetry across the head
shape
 Positional Head Deformity / Nonsynostotic
Plagiocephaly: Head deformity in infant related to fixed
position. Caused by remaining in a supine position for too
long.
Trigonocephaly: is a congenital condition of premature
fusion of the metopic suture leading to a triangular
shaped forehead.
Micrognathia: small lower jaw.
Prognathia: protruding lower jaw
Extra teeth / Supernumerary teeth.

Minor Anomalies /
Dysmorfic features

• Occur in approximately 15 % of newborns

• Can be associated with major anomalies
• It is clue to detect major anomalies
• Infants with 1 minor anomaly have a 3% chance of
having a major malformation, 2 minor anomalies
have a 10% chance, 3 or more minor anomalies have
a 20% chance
 • The greater the number of minor anomalies, the
greater the likelihood of a major anomaly
• Certain minor anomalies suggest specific major
anomalies. In Down syndrome, for example, 79% of
the malformations detectable by clinical examination
are minor anomalies.
• Although minor anomalies occur more frequently
than major ones, they often are overlooked
• More than 70% of minor anomalies involve the hand
or the face, including the eyes, ears, and mouth.
• Although individual minor anomalies may not be
surgically or medically significant, their existence is
clinically important to dysmorphologists
6 minor anomalies occur with a frequency of more than
1 %:
• Upslanted palpebral fissures (3%)
• Single palmar crease (Simian crease) (3,5%)
• Low-set ears (2%)
• High arched palate (2%)
• Sacral pit (1%)
• Down-slanted palpebral fissures (1%)
 Upslanted Palpebral Fissures / Mongoloid Slant: outer
corners of eyes are higher than the inner.
Downslanted Palpebral Fissures: lowered outer corners
of eyes
Epicanthal fold / Epicanthus, or simply eye fold are
names for a skin fold of the upper eyelid, covering the
inner corner (medial canthus) of the eye. Frequency 0,4-
0,5%. More common in girls, and much more often in
Eastern people.
Orbital Hypertelorism: an abnormally increased
distance between inner corners of the eyes. Frequency:
0,4%. In some cases AD.
Orbital Hypotelorism: abnormal decrease in the
intraocular distance
Wide-set nipples: an abnormally increased distance
between nipples. Frequency 0,5 – 0,7%, more common in
girls.
High Arched Palate. A condition where the roof of the
mouth is higher than normal. Gothic palate. Frequency
2%.
Philtrum anomalies: The philtrum is the midline groove
in the upper lip that runs from the top of the lip to the
nose. In infants 8 – 11 mm. Anomalies: Smooth philtrum
(no groove between nose and upper lip); Long philtrum;
Short philtrum
Low-set ears are ears with depressed positioning of the
pinna. If an imaginary line is drawn from the outer
canthus of the eye straight back to the occiput, a low set
ear will fall completely below the line. An ear with
normal set will cross or touch the same line. Frequency
1,0-3,0%.
Synophrys: Hypertrophy and fusion of the eyebrows;
Or meeting of the medial eyebrows in the midline; Or
unibrow.