Mental development, physical development, and height are usually normal. Most patients with Pyles diseases will have symptoms that vary from person to person. Symptoms are:5%–29% of people have

Delated eruption of teethOther people may have

Abnormality of thorax
Absent paranasal sinuses
Arthralgia
Carious teeth
Genu valgum
Hypoplastic frontal sinuses
Limited elbow extension
Mandibular prognathia
Metaphyseal widening
Metaphyseal dysplasia
Muscle weakness
Platyspondyly
Reduced bone mineral density
Scoliosis
Thickened calvaria

Cause
Pyle disease is caused by mutations in the SFRP4 gene. This gene provides instructions for making a protein that blocks (inhibits) a process called Wnt signaling, which is involved in the development of several tissues and organs throughout the body. In particular, regulation of Wnt signaling by the SFRP4 protein is critical for normal bone development and remodeling. Bone remodeling is a normal process in which old bone is broken down and new bone is created to replace it. Mutations in the SFRP4 gene are thought to prevent the production of functional SFRP4 protein. The resulting dysregulation of Wnt signaling leads to the bone abnormalities characteristic of Pyle disease.Pyle disease is inherited in an autosomal recessive pattern, which means both copies of the SFRP4 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. While they do not develop the condition, they may have mild abnormalities of the long bones. Diagnosis
There are two clinical molecular genetic test that are available to those thought to have Pyle’s Disease. Theses test are; Sequence analysis of the entire coding region and Deletion/duplication analysis. Differential diagnosis
Pyle disease may be confused with craniometaphyseal dysplasia.
Bleeding disorder
Women with a bleeding disorder may be prone to more excessive bleeding. A hematologic work-up should discover the cause. Other
On occasion an ovarian cyst can rupture and give rise to internal hemorrhage. This may occur during ovulation or as a result of endometriosis. If the pregnancy test is positive, consider pregnancy related bleeding (see obstetrical hemorrhage), including miscarriage and ectopic pregnancy. Diagnosis
A history will establish if the condition is acute or chronic, and if external circumstances are involved. A gynecologic examination is usually complemented by a gynecologic ultrasonography. A blood count determines the degree of anemia and may point out bleeding problems. The pregnancy test is important, particularly as bleeding in early pregnancy presents as gynecological hemorrhage and ectopic pregnancy can be fatal. Diagnosis is broadly classified into supportive and definitive investigations:

Supportive
Complete blood count to assess degree of anemia. Ultrasonography to rule out uterine lesions, PID. Definitive
Pregnancy test for those who are not yet post menopausal mandatory. Speculum examination to take samples for pap smear. Dilation and curettage to get samples for histology and also control the bleeding if associated with abortion. Colposcopy. Definition
Menstruation occurs typically monthly, lasts 3–7 days, and involves up to 80 ml blood. Bleeding in excess of this norm in a nonpregnant woman constitutes gynecologic hemorrhage. In addition, early pregnancy bleeding has sometimes been included as gynecologic hemorrhage, namely bleeding from a miscarriage or an ectopic pregnancy, while it actually represents obstetrical bleeding. However, from a practical view, early pregnancy bleeding is usually handled like a gynecological hemorrhage.