CONGENITAL

MALFORMATION OF EYE,
EAR, FACE AND NECK
 INTRODUCTION

 Congenital ptosis
 A drooping eyelid is called ptosis or blepharoptosis.
In ptosis, the upper eyelid falls to a position that is
lower than normal. Severe ptosis may cover part or
all of the pupil and interfere with vision, resulting
in amblyopia.
 Ptosis can affect one eye or both eyes. Ptosis may be
present at birth, or may be acquired later in life.
 CONGENITAL ECTROPION

 Ectropion are common maladies of the eyelid margin

that can directly affect ocular function and patient
comfort; surgical repair is commonly performed.
 Ectropion (out-turning of the eyelid) can present
with keratoconjunctivopathy, infection, and
dermatitis, among other signs and symptoms.
 Ectropion is classified into the following categories
on the basis of etiology:
 Congenital ectropion
 Cicatricial ectropion
 Mechanical ectropion
 Involutional ectropion
 ANOPTHALMOS

 is the medical term for the absence of one or

both eyes. Both the globe (human eye) and
the ocular tissue are missing from the orbit.
 The absence of the eye will cause a small bony orbit,
a constricted mucosal socket, short eyelids,
reduced palpebral fissure and malar prominence.
 Spherophakia is an autosomal recessive disorder
resulting from homozygous mutations
in LTBP2 . Parental consanguinity was present in
reported families.
 coloboma is a hole in one of the structures of the eye,
such as the iris, retina, choroid, or optic disc.
 Blue sclera is caused by thinness and transparency of
the collagen fibers of the sclera that allow
visualization of the underlying uvea.
 Peters’ anomaly is one disease in a constellation of
diseases that causes corneal opacity due to anterior
segment dysgenesis (ASD) during development.
 ICD-10-CM GUIDELINES

 Congenital malformations of eyelid, lacrimal

apparatus and orbit- Q10
 Anophthalmos, microphthalmos and
macrophthalmos- Q11
 Congenital lens malformations-Q12
 Congenital malformations of anterior segment of
eye-Q13
 Congenital malformations of posterior segment of
eye- Q14
 Other congenital malformations of eye- Q15
 Congenital malformations of ear causing impairment
of hearing- Q16
 Other congenital malformations of ear-Q17
 Other congenital malformations of face and neck-
Q18
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