Antley-Bixler syndrome

A rare syndromic craniosynostosis characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
The summary has just been updated on Orphanet (ORPHA:83) – April 2021 and revised by Dr Genevieve BAUJAT  for ERN ITHACA.

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Zimmermann-Laband syndrome

A rare genetic multiple congenital anomalies syndrome characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
The summary has just been updated on Orphanet (ORPHA:3473) – April 2021 and revised by Dr Catheline VILAIN for ERN ITHACA.

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8p inverted duplication/deletion syndrome

A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).
The summary has just been updated on Orphanet (ORPHA:96092) – April 2021 and revised by Dr Andrea BARTULI  – Dr Marina MACCHIAIOLO – Dr Davide VECCHIO   for ERN ITHACA.

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DYRK1A-related intellectual disability syndrome

A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects.
The summary has just been updated on Orphanet (ORPHA:464306) – April 2021 and revised by Dr Bregje VAN BON for ERN ITHACA.

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DONSON-related microcephaly-short stature-limb abnormalities spectrum

A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe.
The summary has just been updated on Orphanet (ORPHA:572761) – April 2021 and revised by Dr Sandrine PASSEMARD for ERN ITHACA.

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