Frank-Ter Haar syndrome (FTHS)

¿Que es Frank-Ter Haar syndrome (FTHS)?

Esta rara enfermedad es genética síndrome, con menos de 30 casos diagnosticados a nivel mundial hasta la fecha.

El síndrome presenta una amplia gama de posibles síntomas que afectan a múltiples partes del cuerpo.

Estos incluyen una serie de rasgos faciales únicos y posibles afecciones de salud.

Esta síndrome también se conoce como:
Dermato - cardio - esquelético síndrome Frank-ter Haar síndrome Agujas de Melnick Síndrome, Autosómico recesivo, anteriormente Ter Haar Síndrome

¿Qué causan los cambios genéticos Frank-Ter Haar syndrome (FTHS)?

Las mutaciones en el gen SH3PXD2B causan el síndrome. Se hereda con un patrón autosómico recesivo.

La herencia autosómica recesiva significa que un individuo afectado recibe una copia de un gen mutado de cada uno de sus padres, dándoles dos copias de un gen mutado. Los padres, que portan solo una copia de la mutación genética, generalmente no mostrarán ningún síntoma, pero tienen un 25% de posibilidades de transmitir las copias de las mutaciones genéticas a cada uno de sus hijos.

¿Cuales son los principales síntomas de Frank-Ter Haar syndrome (FTHS)?

El físico principal síntomas del síndrome incluyen anomalías esqueléticas, dedos cortos (dedos de manos y pies), parte posterior de la cabeza aplanada, córnea grande, fontanelas anchas, frente prominente, ojos muy separados y hundidos, ojos prominentes, mejillas llenas y mentón pequeño.

Otras características faciales únicas incluyen un puente nasal profundo, labios carnosos y una boca ancha.

Las personas también pueden nacer con defectos cardíacos y ser diagnosticadas con retraso en el desarrollo.

Posibles rasgos / características clínicas:
Arqueamiento de los huesos largos, Metáfisis acampanada, Irregularidad cortical, Malformación del corazón y grandes vasos, Maloclusión dental, Cierre tardío de la sutura craneal, Proptosis, Hueso largo corto, Micrognatia, Globo anormalmente grande, Glaucoma, Mejillas llenas, Hipertelorismo, Concavidad anterior de vertebra torácica

¿Cómo se hace la prueba a alguien? Frank-Ter Haar syndrome (FTHS)?

Las pruebas iniciales para el síndrome de Frank-Ter Haar pueden comenzar con la detección del análisis facial, a través de la plataforma de telegenética FDNA Telehealth, que puede identificar los marcadores clave del síndrome y describir la necesidad de más pruebas. Seguirá una consulta con un asesor genético y luego con un genetista.

Con base en esta consulta clínica con un genetista, se compartirán las diferentes opciones para las pruebas genéticas y se buscará el consentimiento para realizar más pruebas.

Información médica sobre Frank-Ter Haar syndrome (FTHS)

Ter Haar et al., (1982) reported two boys and a girl from an inbred pedigree with a condition resembling Melnick-Needles syndrome, but with clear differences. One case had signs of increased intraocular pressure at birth. All the cases had prominent eyes, hypertelorism, micrognathia, brachycephaly and large anterior fontanelles. Radiographs revealed metaphyseal flaring of the long bones, bowing of the tibiae and radii, and irregularly contoured ribs with multiple constrictions and flaring of the anterior ends. The vertebrae had a decreased anteroposterior diameter and anterior scalloping. There was also brachydactyly with shortening of the phalanges. Two children had congenital heart defects (double outlet right ventricle, PDA, VSD). Development was said to be normal. Hamel et al., (1992) (3rd European Dysmorphology Conference) reported a further case from the same extended pedigree who was noted to have almost absent elastin on skin biopsy. They pointed out the similarity to the case with macrocornea reported by Frank et al., (1973) (see megalocornea-skeletal anomalies), but in that syndrome the cases are retarded and do not have increased intraocular pressure. The same case was reported in more detail by Hamel et al., (1995). Further similarities with the patient reported by Billette de Villemeur et al., (1992) as a case of Bowen syndrome were also commented on.

Borrone et al., (1993) reported two brothers with a condition resembling a storage disorder, but where no biochemical defect was found. There was progressive thickening of the skin from infancy with coarsening of the face, gingival hypertrophy and severe acne. There was brachydactyly and camptodactyly and radiographs revealed reduced AP diameters of the vertebrae with some anterior beaking and appearances resembling Scheuermann disease. In the hands there was diffuse osteoporosis with undermodelling of the metacarpals and phalanges, and a suggestion of proximal tapering of the metacarpals. There were similar appearances in the feet with some areas of sclerosis. Skin biopsy showed diffuse dermal fibrosis, hyalinosis, and metaplastic ossification. Involvement of the cardiac valves was an important complication and one brother died from heart failure secondary to mitral valve prolapse at the age of 24 years.
Two Dutch brothers with this condition were described. They were facially strikingly similar (coarse facial features, prominent jaws and full upper lips) and had progressive mitral valve disease. Gum hypertrophy and osteolysis were not present, although they were younger than the Borrone et al., (1993) patients.
Megarbane et al., (1997) reported two affected sibs, the offspring of first cousin parents and also discuss overlap with Bowen syndrome.
Rosser et al., (1996) reported two brothers and a sister who had features of the condition. One brother had an XXY carrier type. In the other the karyotype was not carried out. One case had a convincing serpentine fibula. The overlap between serpentine fibula syndrome, ter Haar syndrome and Hajdu-Cheney syndrome was noted. Both males died in the first year of life from respiratory failure. Two cases had intestinal malrotation. One case had an iris coloboma.
The brother and sister, reported as having a new syndrome by Huq et al (1997), have many similarities to this condition. Camptodactyly of the second to the fourth fingers was noted with an extended index finger (giving the authors to suggest Pointer syndrome as a suitable name for the condition). Facial and radiological syndromes were similar to those seen in the ter Haar et al., (1982) patients. However there was osteoporosis and a tendency to fractures.
Wallerstein et al., (1997) reported a 13 year old boy with this condition. He had a verbal IQ of 75, performance IQ of 67 and a full scale IQ of 68.
Al-Gazali et al., (1999) reported an infant with some features of this condition. There was marked hypocalvaria with Wormian bones and clouding of the cornea was not remarked upon.
Nishimura and Nagai et al., (1998) reported a 3-year-old girl with some features of the condition, but evidence of a mosaic problem. There was short stature, congenital heart defects (ASD, VSD, PDA) and facial dysmorphism with hypertelorism, some frontal bossing, proptosis and a long philtrum. There was linear hypopigmentation on the legs. Radiological features were somewhat similar to those seen in ter Haar syndrome.
Three Turkish sibs (plus a single case) with this condition were reported by Maas et al., (2004). These authors stress that to the brachycephaly, prominent forehead and eyes, should be added the prominent, anteverted, simple ears as part of the facial gestalt.
Homozygotic mapping in 12 families has located mutations in the gene (SH3PXD2B) on chromosome 5q35.1 (Iqbal et al., 2010). The gene encodes the TKS4 protein, a podosome adaptor protein.
Three sibs were reported by Bendon et al., (2013). Two had non-scaphocephalic sagittal synostosis with raised intracranial pressure.
Wilson et al., (2014) found mutations in SH3PXD2B.
Parker et al (2014), described three patients with Frank-Ter-Haar syndrome, focusing on the dental features. The patients, 2 males and one female showed gingival hyperplasia, delayed dental development with delayed eruption, impacted teeth, increased gonial angle and accentuated gonial notch, flattened condylar head and, taurodont teeth. The patients showed typical features including brachycephaly, wide fontanelles, prominent forehead, hypertelorism, prominent eyes with macrocornea (with or without glaucoma), full cheeks,small chin, bowing of the long bones and flexion deformities of the fingers. Additional features included mucosal polyps, regurgitation of aortic and mitral valves, cardiomyopathy, unilateral hearing loss and craniosynostosis.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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