Congenital Anomalies are also known as
congenital disorders or
Congenital anomalies can be defined as structural or
functional anomalies including metabolic disorders
which are present at the time of birth.
Appro 50% of all congenital anomalies cannot be
assigned to a specific cause
However some causes or risk factors have been
associated to congenital anomalies which are
Causes of congenital anomalies
1-Genetic factors such as chromosomal
abnormalities and mutant genes.
2-Environmental factors e.g.: the mother had
German measles in early pregnancy will cause
abnormality in the embryo.
3-Combined genetic and environmental
factors (mutlifactorials factors).
Congenital anomalies of neck
Branchial Cysts and Sinuses
Thyroglossal duct and thyroid abnormalities
Ectopic thymic and Parathyroid tissue
The most typical feature in development of the
neck is formed by the pharyngeal or branchial
arches. These arches appear in the fourth and fifth
weeks of development and contribute to the
characteristic external appearance of the embryo
.Initially, they consist of bars of mesenchymal tissue
separated by deep clefts known as pharyngeal
Pharyngeal Arch Development:
Pharyngeal Arch Development
Simultaneously, with development of the arches and clefts,
a number of outpocketings, the pharyngeal pouches,
appear along the lateral walls of the pharyngeal gut, the
most cranial part of the foregut The pouches penetrate the
surrounding mesenchyme, but do not establish an open
communication with the external clefts. Hence, although
development of pharyngeal arches,clefts, and pouches
resembles formation of gills in fishes and amphibia, in
the human embryo real gills (branchia) are never formed.
Therefore, the term pharyngeal (arches, clefts, and
pouches) has been adopted for the human embryo.
Arise from embryonic remnants
of the SECOND branchial cleft.
Lined by stratified squamous epithelium &
most have lymphoid
tissue in the wall.
Contain straw-coloured fluid rich in
Branchial Cyst: (cont.)
Most frequently seen in young adults
Peak age: third decade
Slowly-growing, painless, soft cystic swelling,
characteristically under the ant. border of the upper &
middle 1/3 of the SCM muscle.
Branchial cysts are not translucent & do not move on
FNAC yields acellular fluid that can be rich
in cholesterol crystals.
Branchial Cyst: (cont.)
FNAC yields acellular fluid that can be rich in
Present as fistulas or cysts anywhere on the
anterior border of the sternocleidomastoideus
Cyst presents with nontender enlarging swelling
Fistula presents with drainage of saliva from the
Treatment: Early excision
Complication: Cysts and fistulas can become
infected if not resected early in childhood
Thyroglossal Cyst :
A developmental abnormality dt persistence of a part of the
thyroglossal tract (extends from the foramen caecum at the BOT
to the isthmus of thyroid gland).
¼ above the hyoid (Intralingual or Suprahyoid).
¾ below the hyoid (Thyrohyoid or Suprasternal).
Most common midline neck cyst.
Mean age: 5 years (about 30% present after 30y).
Thyroglossal Cyst : (cont.)
Midline painless neck cyst that moves up &
down with swallowing & on tongue protrusion.
Sometimes may present as an infected cyst.
Surgical excision of the cyst + tract
the body of hyoid bone (Sistrunk
Ectopic Thymic and Parathyroid Tissue
Since glandular tissue derived from the pouches
undergoes migration, it is not unusual for accessory
glands or remnants of tissue to persist along the
pathway. This is true particularly for thymic tissue,
which may remain in the neck, and for the
parathyroid glands. The inferior parathyroids are
more variable in position than the superior ones and
are sometimes found at the bifurcation of the
common carotid artery
Ectopic Thymic And Parathyroid
Lymphangiomas are congenital malformations of
lymph tissue that result from the failure of lymph
spaces to connect to the rest of the lymphatic
Lymphangiomas present as a soft, smooth,
nontender mass that is compressible and can be
Depending on the size and location, there might
be respiratory compromise and difficulty in
Rare malformations of the lymphatic system that usually
present as a posterior neck swelling.
Sequestration of a portion of the jugular lymph ducts from the
The swelling consists of an aggregation of cysts like a mass of
soap bubbles each filled with lymph.
Cystic Hygroma: (cont.)
Age at presentation:
60% at birth, 75% by 1y., 90% by 2nd birthday
Soft easily compressible, translucent, fluctuant, ill-defined posterior
May spread into cheek, floor of mouth, tongue, parotid & ear canal.
Stridor dt. tracheal displacement with mediastinal involvement.
CT scan with contrast makes
Cystic Hygroma: (cont.)
Surgical resection via a neck incision.
Total excision is sometimes difficult and recurrences
are not infrequent.
A benign skin lesion consisting of dense,
usually elevated masses of dilated blood
Blood vessels are tubes of endothelial cells surrounded
by layers of smooth muscle cells and connective tissue
proteins, which develop as a result of biochemical
signals between the two.
Sometimes this communication fails and abnormal
blood vessels form.