Apert Syndrome
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" ...

Sindrome de Apert. Presentacion de un caso
Dr. Eugenio Carro Puig et al., Rev Cubana Pediatr v.77 n.3, 2005
[Spanish]
Se presenta el caso de una paciente, del sexo femenino y la raza negra, de 3 dias de edad, ingresada en el Servicio Abierto de Neonatologia del Hospital Pediatrico «Arthur Davison» de Ndola (Zambia). La paciente fue diagnosticada como portadora de un sindrome de Apert, considerado una enfermedad de origen genetico. Se fundamenta el diagnostico en criterios clinicos y radiologicos y se realiza una revision de la literatura medica sobre el tema. Palabras clave: Acrocefalia, sindactilia, sindrome de Apert ...

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

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Last Updated: 2023/08/03

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