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Apert Syndrome - Acrocephalosyndactyly

International Birth Defects Information Systems



Apert Syndrome - Acrocephalosyndactyly


Topics: | Apert Syndrome | Acrocephalosyndactyly I, II | ACS I |

Related Topics: | Crouzon Disease |

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Languages: | English | Spanish | Ukrainian |

Apert Syndrome
Victor A. McKusick, OMIM, Johns Hopkins University, December 27, 2006
Gene Map Locus: 10q26
Apert (1906) defined a syndrome characterized by skull malformation (acrocephaly of brachyshenocephalic type) and syndactyly of the hands and feet of a special type (complete distal fusion with a tendency to fusion also of the bony structures) ... Blank (1960) assembled case material on 54 patients born in Great Britain. Two clinical categories were distinguished: ... "typical" acrocephalosyndactyly, ... other forms lumped together as "atypical" acrocephalosyndactyly. The feature distinguishing the 2 types is a middigital hand mass with a single nail common to digits 2 - 4, found in Apert syndrome and lacking in the others ... Six of 12 autopsies showed visceral anomalies but in none were these identical. A frequency of Apert syndrome of 1 in 160,000 births was estimated. Varying degrees of mental deficiency are associated with the syndrome; ... individuals with normal intelligence have been reported ... craniectomy early in life may have improved intelligence ... Contrary to early conclusions such as that of Park and Powers (1920), Cohen and Kreiborg (1990) concluded that many patients are mentally retarded ... Most cases of Apert syndrome are sporadic, ... Paternal age effect is demonstrable ... 57 cases gave a birth prevalence calculated to be approximately 15.5 per million births, ... Apert syndrome accounted for about 4.5 % of all cases of craniosynostosis ... Cohen and Kreiborg (1995) commented on the cutaneous manifestations ... Hyperhidrosis was found in all patients ... Acniform lesions ... "interrupted eyebrows" ... Cohen and Kreigborg (1995) ... pointed out that in Apert syndrome, the upper limb is more severely affected than the lower limb. Coalition of distal phalanges and synonychia found in the hands is never present in the feet ... Analysis of 118 unrelated patients with new mutations revealed that the mutational spectrum in Apert syndrome is remarkably narrow ... With rare exceptions, Apert syndrome is caused in all cases by 1 0f 2 recurrent missense mutations of the FGFR2 gene involving 2 adjacent amino acids: ...

The Apert Listserv
Apert International, Inc, 2007
... Our listserv is hosted free of charge on America Online's server using L - Soft listserv software. The name of the list is "Apert" ...

La ortopodología en el síndrome de Apert
Adelina Dorca Coll et al., Podólogas
Visitor Comments [Illustrated] [Spanish]
Los autores describen las características morfológicas y funcionales del pie y de la marcha de un niño afectado de un síndrome de Apert. Asimismo proponen varios tratamientos ortopodológicos, y describen su diseño, confección y aplicación con las técnicas: TAD y sobre molde positivo. Palabras clave: Síndrome de Apert. Prótesis. Ortesis plantar. Estrés valgo ...

Síndrome de Apert
Monografias.com
Visitor Comments [Illustrated] [Spanish]
El tratamiento de los pacientes con síndrome de Apert debe ser enfocado desde un punto de vista integral y requiere del esfuerzo combinado de una gran cantidad de profesionales de diversa índole, quienes deben formar parte de la clínica de anomalías craneofaciales ...

Síndrome de Apert
Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia
Visitor Comments [Spanish]
Definición ... Es una enfermedad genética que puede ser hereditaria o que puede también presentarse sin que existan antecedentes familiares conocidos. Esta afección se caracteriza por el cierre prematuro de las suturas entre los huesos del cráneo, lo cual hace que la cabeza tome una forma puntiaguda y que se presente una apariencia inusual de la cara. Nombres alternativos ... Acrocefalosindactilia ...

Síndrome de Apert. Presentación de un caso
Dr. Eugenio Carro Puig et al., Rev Cubana Pediatr v.77 n.3, 2005
Visitor Comments [Spanish]
Se presenta el caso de una paciente, del sexo femenino y la raza negra, de 3 días de edad, ingresada en el Servicio Abierto de Neonatología del Hospital Pediátrico «Arthur Davison» de Ndola (Zambia). La paciente fue diagnosticada como portadora de un síndrome de Apert, considerado una enfermedad de origen genético. Se fundamenta el diagnóstico en criterios clínicos y radiológicos y se realiza una revisión de la literatura médica sobre el tema. Palabras clave: Acrocefalia, sindactilia, síndrome de Apert ...

Apert Syndrome
I.B.I.S. Birth Defects, February 15, 2002
Visitor Comments [Ukrainian]
Factsheet in Ukrainian

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Last Updated: 2008/3/5

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