ORPHA:2963 Synonym(s): Petty syndrome Petty-Laxova-Wiedemann syndrome Prevalence: Inheritance: - Age of onset: Neonatal ICD-10: E34.8 OMIM: 612289 UMLS: C2931653 MeSH: - GARD: 4497 MedDRA: - The documents contained in this web site are presented for information[orpha.net]
[…] aortic valve Aortic valve has two leaflets rather than three 0001647 Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Cerebellar vermis hypoplasia 0001320 Coarse hair Coarse hair texture 0002208 Congenital onset Symptoms present[rarediseases.info.nih.gov]
At present, the biological basis of aging is unknown. 4.[slideshare.net]
Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S.[globalgenes.org]
0000160 Oligodontia Failure of development of more than six teeth 0000677 Oligohydramnios Low levels of amniotic fluid 0001562 Patent ductus arteriosus 0001643 Periventricular heterotopia 0007165 Platyspondyly Flattened vertebrae 0000926 Pneumothorax Collapsed[rarediseases.info.nih.gov]
1/4,000 live births, more in females (2:1) –Ectopic thyroid gland is the most common etiology; may also be caused by thyroid dysgenesis, thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism –Physical findings include prolonged jaundice, macroglossia[checkorphan.org]
[…] occurs in 1/4,000 live births, more in females (2:1) –Ectopic thyroid gland is the most common etiology; may also be caused by thyroid dysgenesis, thyroid dyshormonogenesis, hypothalamic-pituitary hypothyroidism –Physical findings include prolonged jaundice[checkorphan.org]
[…] formation of skull 0004331 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Everted lower lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Generalized hirsutism[rarediseases.info.nih.gov]
Mild hirsutism extended down her back. Her smooth skin, without atrophy or abnormal pigmenta- tion, was notably wrinkled and markedly redundant, especially in the neck and truncal regions.[docslide.net]
[…] abdominal wall musculature Abdominal situs inversus Megacystis Seizures Anxiety Gastroesophageal reflux Short distal phalanx of finger Lipoatrophy Everted lower lip vermilion Abnormality of the hair Wide anterior fontanel Abnormality of the nail Generalized hirsutism[mendelian.co]
face * Short stature * Small face * Underdeveloped end bones of fingers * Thick eyebrows * Umbilical hernia * Shagreen patch * Reduced fat under skin Causes - Progeroid syndrome Petty type * Hypothyroidism –Primary congenital hypothyroidism occurs in[checkorphan.org]
[…] broad flat nose –Acquired hypothyroidism is most commonly due to iodine deficiency or chronic autoimmune thyroiditis * Increased intracranial pressure –Usually accompanied by increased head circumference –Hydrocephalus –Trauma –Acute CNS infections (meningitis[checkorphan.org]
Treatment - Progeroid syndrome Petty type * For hypothyroidism, the treatment is thyroid replacement therapy, typically determined by endocrinologist * Hydrocephalus is treated, if needed, with neurosurgery and ventriculoperitoneal shunting * Rickets[checkorphan.org]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
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In the absence of specific treatment for EDS type IV, medical intervention should be focused on symptomatic treatment and prophylactic measures.[paperity.org]
Prognosis - Progeroid syndrome Petty type Not supplied.[checkorphan.org]
Prognosis. Most individuals succumb to cardiovascular disease, with diffuse atherosclerosis noted on autopsy [18]. Mean age at death in those with classic HGS is 12.6 years, with a range between 1.5 and 27 years [3].[plasticsurgerykey.com]
Making an accurate diagnosis of the correct accelerated/premature aging syndrome is crucial because all of these conditions vary in inheritance pattern, natural history and prognosis.[obgynkey.com]
Due to different clinical symptoms, natural history and prognosis, EDS type IV should be assessed separately within the group of EDS.[ojrd.biomedcentral.com]
[…] eyebrows * Umbilical hernia * Shagreen patch * Reduced fat under skin Causes - Progeroid syndrome Petty type * Hypothyroidism –Primary congenital hypothyroidism occurs in 1/4,000 live births, more in females (2:1) –Ectopic thyroid gland is the most common etiology[checkorphan.org]
Progeroid syndrome, Petty type and Saethre-Chotzen syndrome (see these terms) have overlapping features with GCM syndrome and should be considered in the differential diagnosis.EtiologyThe etiology is still unknown and, to date, no causative gene has[malacards.org]
Cutis laxa is a connective tissue dysplasia observed in a number of heritable conditions and syndromes and thus is etiologically heterogeneous; in all forms of cutis laxa, the skin of the face and/or trunk is loose or wrinkled.[obgynkey.com]
Bowen-Bravery: An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967. The American Journal of Medical Genetics, New York, 1977, 1 (1): 75-86. M. A. Ridler, R. Laxova, K.[whonamedit.com]
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Epidemiology The Ehlers-Danlos syndromes are a group of hereditary disorders of connective tissue, whose prevalence is estimated between 1/10,000 and 1/25,000, with no ethnic predisposition.[ojrd.biomedcentral.com]
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Shortened telomeres activate a mechanism that prevents further cell multiplication. This may be an important mechanism of ageing in tissues like bone marrow and the arterial lining where active cell division is necessary.[slideshare.net]