All About Goltz Syndrome

Goltz Syndrome

Alternate names

• Focal Dermal Hypoplasia
• Goltz-Gorlin Syndrome
• FODH; FDH

Occurrence

• Rare disorder (actual frequency in the population is unknown)
• Most cases (~95%) are isolated (sole occurrence in the family)
• Few familial occurrences have been published, almost exclusively female-to-female transmission
• Most affected cases (~90+%) are girls.
• A few (10%) males have been affected; those males are all new genetic events (new mutations).
• No father-to-son transmission has ever occurred.
• Therefore, he altered gene is considered “lethal” to a male pregnancy (fetus), essentially all of whom die in the womb and only affected females survive to be born. This is termed “X-linked Dominant inheritance with male lethality” or X-linked Dominant Lethal”.

What causes Goltz syndrome?

Genetics

• A change (mutation) in a gene called PORCN results in Goltz syndrome
• Genes are on chromosomes.
• Only seen in girls or in boys with XXY
• The gene is on the X chromosome.
• X-linked dominant disorder
• The gene undergoes X inactivation

In Goltz syndrome, the brain, eyes, spine, ribs, midface, teeth, skin, chest, heart, abdomen, and other organs may have defects in development. The different organ systems have hugely variable manifestations. Some individuals may have much more than others. Individuals may be mildly, moderately, or severely affected. Features are often asymmetrical with the right and left side of the body being affected different.

Abdomen

• Diastasis recti (a separation of the two halves on the rectus abdominis muscles down the middle of the abdomen)
• Omphalocele (congenital hernia of the umbilicus)
• Umbilical hernia

Central Nervous System involvement

• Mental retardation (15%)
• Myelomeningocele (spinal bifida with a portion of the spinal cord and membranes protruding)
• Hydrocephalus
• Agenesis of corpus callosum (failure of the great commissure of the brain that connects the cerebral hemispheres to develop)
• Arnold-Chiari malformation (a condition in which the inferior poles of the cerebellar hemispheres and the medulla protrude through the foramen magnum into the spinal canal)

Chest

• Asymmetric breasts
• Diaphragmatic hernia
• Midclavicular hypoplasia (underdeveloped) or aplasia (never developed)
• Rib hypoplasia (underdeveloped)
• Supernumerary nipples (more than normal)

Eyes

• Aniridia (3%) (congenital absence of all or part of the iris)
• Ectopia Lentis (6%) (dislocation of the crystalline lens of the eye)
• Irido-choroido-retinal coloboma (notch in the iris, lining of the eye, and nerve tissue in the eye)
• Microphthalmia (15%) (abnormally small size of one or both eyes)
• Optic Atrophy (wasting and decreased size of the optic nerve)

Facial manifestations

• Broad nasal tip
• Cleft lip/palate
• Hypodontia
• Left/right asymmetry of the face
• Malformed, protruding, sometimes low-set ears
• Narrow nasal bridge
• Notched alae nasi (winged section of the nose, broad portion of the lateral wall of each nostril)
• Pointed chin
• Wide set eyes

Gastrointestinal

• Anteriorly placed anus
• Esophageal papillomas (a benign epithelial tumor of the surface lining the esophagus)
• Inguinal hernia
• Intestinal malrotation

Genital/Urinary

• Bifid ureter (congenital splitting of the tube connecting the kidney to the bladder)
• Clitoral, labial hypoplasia (underdeveloped tissue)
• Cryptorchidism (one or both of the testes have not descended into the scrotum)
• Horseshoe kidney
• Hydronephrosis (a collection of urine in the renal pelvis because of obstructive outflow causing distension and atrophy of the kidney)

Skin

• Abnormally pigmented skin
• Dystrophic, missing nails/poorly developed spoon-shaped or grooved nails
• Herniation/dysplasia of adipose tissue/fatty tissue may protrude through the skin.
• Linear, reticular hyperpigmentation
• Papillomas (benign epithelial tumors)/Lumps of raised tissue on the lips, gums, base of tongue and around the mouth, anus, vulva, groin and axilla (arm pit).
• Patches of hair loss on scalp and pubis
• Postaxial polydactylia (more than one layer)
• Skin atrophy
• Small areas ranging from absent skin to thin skin on various parts of the body, especially the scalp
• Some individuals may not sweat normally over their entire body but their palms and soles may sweat excessively.
• Sparse, brittle hair

Skeletal

• Asymmetric skull, skeleton
• Digital anomalies/ fusion or shortening of fingers and toes, missing or underdeveloped bones of the hands and feet, extra fingers or toes, and other abnormalities of the digits have been reported
• Hip dislocation
• Scoliosis (S-shaped distortion of the spine)

Teeth

• Delayed eruption of teeth
• Enamel hypoplasia
• Malocclusion/ Irregular position of teeth
• Notched incisors
  Oligodontia (congenitally missing teeth)  
  
  

Updated: July 2005 by The National Foundation for Ectodermal Dysplasias, NFED