Zadik Barak Levin syndrome
Encyclopedia
Zadik Barak Levin Syndrome (ZBLS) is a congenital disorder
in humans. Presenting conditions include primary hypothyroidism
, cleft palate, hypodontia
, and ectoderm
al dysplasia
. It is the result of an embryo
nic defect in the mesoderm
al-ectodermal midline development.
Congenital disorder
A congenital disorder, or congenital disease, is a condition existing at birth and often before birth, or that develops during the first month of life , regardless of causation...
in humans. Presenting conditions include primary hypothyroidism
Hypothyroidism
Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone.Iodine deficiency is the most common cause of hypothyroidism worldwide but it can be caused by other causes such as several conditions of the thyroid gland or, less commonly, the pituitary gland or...
, cleft palate, hypodontia
Hypodontia
In dentistry, hypodontia is the condition at which the patient has missing teeth as a result of their failure to develop. Hypodontia describes a situation where the patient is missing up to 6 teeth, excluding the 3rd molars. Missing third molars occur in 9-30% of population...
, and ectoderm
Ectoderm
The "ectoderm" is one of the three primary germ cell layers in the very early embryo. The other two layers are the mesoderm and endoderm , with the ectoderm as the most exterior layer...
al dysplasia
Dysplasia
Dysplasia , is a term used in pathology to refer to an abnormality of development. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process...
. It is the result of an embryo
Embryo
An embryo is a multicellular diploid eukaryote in its earliest stage of development, from the time of first cell division until birth, hatching, or germination...
nic defect in the mesoderm
Mesoderm
In all bilaterian animals, the mesoderm is one of the three primary germ cell layers in the very early embryo. The other two layers are the ectoderm and endoderm , with the mesoderm as the middle layer between them.The mesoderm forms mesenchyme , mesothelium, non-epithelial blood corpuscles and...
al-ectodermal midline development.
Signs and symptoms
- anodontia/oligodontia — no teeth or fewer teeth than normal
- cleft palate
- depressed nasal bridge
- dry skin
- ectopic/agenesisAgenesisIn medicine, agenesis refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue...
/hypoplasticHypoplasiaHypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
thyroid - epibulbar dermoidDermoid cystA dermoid cyst is a cystic teratoma that contains developmentally mature skin complete with hair follicles and sweat glands, sometimes clumps of long hair, and often pockets of sebum, blood, fat, bone, nails, teeth, eyes, cartilage, and thyroid tissue. Because it contains mature tissue, a dermoid...
- frontal bossing
- hypertelorismHypertelorismHypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits . In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal...
- hypothyroidy
- lordosisLordosisLordosis is a medical term used to describe an inward curvature of a portion of the lumbar and cervical vertebral column. Two segments of the vertebral column, namely cervical and lumbar, are normally lordotic, that is, they are set in a curve that has its convexity anteriorly and concavity...
- macroglossiaMacroglossiaMacroglossia is the medical term for unusual enlargement of the tongue. Severe enlargement of the tongue can cause cosmetic and functional difficulties including in speaking, eating, swallowing and sleeping.- Amyloid Disorders :...
- microcephalyMicrocephalyMicrocephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
- micrognatia/retrognatia — small or recessed jaw(s)
- polyhydramniosPolyhydramniosPolyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in 0.2 to 1.6% of pregnancies,,...
- short stature/dwarfismDwarfismDwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches , although this definition is problematic because short stature in itself is not a disorder....
- sparse/absent scalp hair(generalized)
- squint/paresisParesisParesis is a condition typified by partial loss of voluntary movement or by impaired movement. When used without qualifiers, it usually refers to the limbs, but it also can be used to describe the muscles of the eyes , the stomach , and also the vocal cords...
of ocularHuman eyeThe human eye is an organ which reacts to light for several purposes. As a conscious sense organ, the eye allows vision. Rod and cone cells in the retina allow conscious light perception and vision including color differentiation and the perception of depth...
muscles - umbilical herniaUmbilical herniaCongenital umbilical hernia is a congenital malformation, common in infants of African descent. Among adults, it is three times more common in women than in men; among children, the ratio is roughly equal...