Disease Directory

Pendred syndrome is a genetic disorder that most often causes hearing loss in both ears and a thyroid gland enlargement known as a goiter. People with...

Perlman syndrome is a rare condition that is usually seen at birth. It is known for several key features including an excess of amniotic fluid during...

Perrault syndrome is a condition where people with this condition often experience ovarian dysgenesis and sensorineural hearing impairment. In females...

Perrault syndrome 1 is a rare genetic condition caused by a mutation in the HSD17B4 gene. It is one form of Perrault syndrome, and the name highlights...

Perrault syndrome 2 is a rare condition caused by a mutation in the HARS2 gene. It is one of the forms of Perrault syndrome and is defined by its gene...

Perrault syndrome 3 is a rare genetic condition that is part of the Perrault syndromes group. This condition is caused by mutations in the CLPP gene a...

Perrault syndrome 4 is a rare condition that is part of a group of disorders known as Perrault syndrome. This specific type is caused by a mutation in...

Perrault syndrome 5 is a rare genetic condition that is caused by mutations in the TWNK gene. This condition is one of several that fall under the umb...

Perrault syndrome 6, also known as PRLTS6, is a rare condition that currently has limited detailed descriptions available in public medical sources. I...

Perrault syndrome 7 is a rare condition that is associated with genetic variations. Detailed information about the overall clinical characteristics is...

Perry syndrome is a rare inherited neurodegenerative disorder that typically appears early in life. It is known for its rapid progression and shares s...

Peters anomaly is a congenital condition that affects the eyes. It is marked by a cloudy area in the center of the cornea (the clear front part of the...

Information about the definition of Peters anomaly-cataract syndrome is currently limited for this condition. The name of the condition suggests it in...

Peters plus syndrome is a rare genetic condition characterized by a group of developmental abnormalities. It primarily affects the eyes with features...

Peutz-Jeghers syndrome is a rare genetic disorder that is inherited in an autosomal dominant pattern. It is caused by changes in the STK11 gene and is...

Pfeiffer syndrome is a form of congenital malformation disorder that affects the skull, hands, and feet. It is part of a group of conditions known as...

Pfeiffer syndrome type 1 (PS1), also known as classic Pfeiffer syndrome, is a condition that affects the development of the skull and limbs. It is con...

Pfeiffer syndrome type 2 is a severe form of Pfeiffer syndrome. It is characterized by a cloverleaf skull, which is a unique skull shape, and severe f...

Pfeiffer syndrome type 3 (PS3) is a severe form of Pfeiffer syndrome. It is characterized by bicoronal craniosynostosis, which is an early fusion of t...

Pfeiffer-Palm-Teller syndrome is a very rare condition that affects growth and development. It is a dysmorphic syndrome noted in two siblings and char...