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Progeroid syndrome, Petty type

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Disease definition

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

ORPHA:2963

Classification level: Disorder

Synonym(s):
  • Fontaine progeroid syndrome
  • Petty syndrome
  • Petty-Laxova-Wiedemann syndrome

Prevalence: <1 / 1 000 000

Inheritance: -

Age of onset: Neonatal

ICD-10: E34.8

OMIM: 612289

UMLS: C2676780

MeSH: C567360

GARD: 4497

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018) Polski (2024)
Detailed information
Disease review articles
Clinical genetics review
English (2022) - GeneReviews

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. 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.