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Peromelia

MedGen UID:
869763
•Concept ID:
C4024192
•
Anatomical Abnormality
HPO: HP:0009828

Definition

The distal parts of the limbs are missing leading to a stump formation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeromelia

Conditions with this feature

Acheiropodia
MedGen UID:
120547
•Concept ID:
C0265559
•
Congenital Abnormality
Acheiropody is characterized by bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of malformations consist of a complete amputation of the distal epiphysis of the humerus, amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna, fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones (summary by Ianakiev et al., 2001).
See: Condition Record
Acheiropodia

Recent clinical studies

Etiology

A case of severe dysmelia of all extremities.
Visnovsky J, Biringer K, Dokus K
Fetal Pediatr Pathol 2011;30(6):375-9. Epub 2011 Aug 24 doi: 10.3109/15513815.2011.587496. PMID: 21864119
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. V: conjoined and acardiac twins.
Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC
Am J Med Genet 1998 Oct 30;80(1):74-89. PMID: 9800913
FFU complex: an analysis of 491 cases.
Lenz W, Zygulska M, Horst J
Hum Genet 1993 May;91(4):347-56. doi: 10.1007/BF00217355. PMID: 8500790
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome.
Herrmann J, Pallister PD, Gilbert EF, Vieseskul C, Bersu E, Pettersen JC, Opitz JM
Eur J Pediatr 1976 Apr 6;122(1):19-55. doi: 10.1007/BF00445030. PMID: 1261566

Diagnosis

A Rare Case of Hanhart Syndrome with Mild Developmental Delay.
Gulec Ceylan G, Tos T, Sari E
Genet Couns 2016;27(2):219-22. PMID: 29485825
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. V: conjoined and acardiac twins.
Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC
Am J Med Genet 1998 Oct 30;80(1):74-89. PMID: 9800913
Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.
Mollica F, Mazzone D, Cimino G, Opitz JM
Am J Med Genet 1995 Mar 27;56(2):168-72. doi: 10.1002/ajmg.1320560211. PMID: 7625440
Splenic gonadal fusion.
Walther MM, Trulock TS, Finnerty DP, Woodard J
Urology 1988 Dec;32(6):521-4. doi: 10.1016/s0090-4295(98)90033-4. PMID: 3059658
Studies of malformation syndromes of man XXXXI B: nosologic studies in the Hanhart and the Möbius syndrome.
Herrmann J, Pallister PD, Gilbert EF, Vieseskul C, Bersu E, Pettersen JC, Opitz JM
Eur J Pediatr 1976 Apr 6;122(1):19-55. doi: 10.1007/BF00445030. PMID: 1261566

Prognosis

Severe case of Al Awadi/Raas-Rothschild syndrome or new, possibly autosomal recessive facio-skeleto-genital syndrome.
Mollica F, Mazzone D, Cimino G, Opitz JM
Am J Med Genet 1995 Mar 27;56(2):168-72. doi: 10.1002/ajmg.1320560211. PMID: 7625440

Clinical prediction guides

Neuropathological findings in Moebius syndrome.
Lammens M, Moerman Ph, Fryns JP, Schröder JM, Spinnewyn D, Casaer P, Dom R
Clin Genet 1998 Aug;54(2):136-41. doi: 10.1111/j.1399-0004.1998.tb03716.x. PMID: 9761392
A case of ambiguous genitalia with unilateral amelia and unilateral peromelia of the upper limbs.
Temoçin AK, Yüksel B, Tuncer R, Ozer G, Zorludemir U
Acta Paediatr Jpn 1997 Oct;39(5):631-3. doi: 10.1111/j.1442-200x.1997.tb03656.x. PMID: 9363668
Unusual cardiac malformations in splenogonadal fusion-peromelia syndrome: relationship to normal development.
Loomis KF, Moore GW, Hutchins GM
Teratology 1982 Feb;25(1):1-9. doi: 10.1002/tera.1420250102. PMID: 7064106

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