Nicolaides-Baraitser syndrome

A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.

The summary has just been updated on Orphanet (ORPHA:3051) – March 2021 and revised by Dr Gianluca CONTRO and Dr Livia GARAVELLI for ERN ITHACA .

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Williams syndrome

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.

The summary has just been updated on Orphanet (ORPHA:904) – March 2021 and revised by Dr Pernille GREGERSEN, Dr Mette HANDRUP  and Dr Anne LEEGAARD for ERN ITHACA .

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Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

A rare genetic neurodevelopmental disorder characterized by global developmental delay (DD) and variable degrees of intellectual disability (ID) with delayed or limited/absent speech development associated with neonatal hypotonia, feeding difficulties, cardiac anomalies and dysmorphic facial features, predominantly broad nasal tip and thin, tented upper lip. Microcephaly, frequent infections, gastrointestinal and/or ocular anomalies have also been described.

The summary has just been updated on Orphanet (ORPHA:457193) – March 2021 and revised by Dr Dr Patricia DIAS and Dr Mariana NEVES for ERN ITHACA .

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Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies.

The summary has just been updated on Orphanet (ORPHA:496641) – March 2021 and revised by Dr Marcia RODRIGUES and Dr Marta SOARES  for ERN ITHACA .

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Branchio-oculo-facial syndrome

A rare, dominantly inherited multiple congenital anomalies syndrome characterized by highly variable clinical phenotype involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.

The summary has just been updated on Orphanet (ORPHA:1297) – March 2021 and revised by Dr Patricia DIAS and Dr Mariana NEVES for ERN ITHACA .

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Lamb-Shaffer syndrome

A rare genetic syndromic intellectual disability characterized by global developmental delay and speech delay, variable degrees of intellectual disability, and dysmorphic facial features (such as frontal bossing, epicanthal folds, strabismus, depressed nasal bridge, short philtrum, auricular abnormalities, micrognathia, or crowded teeth, among others). Additional reported manifestations are behavioral problems (stereotypies, aggression, anxiety, autism spectrum disorder), skeletal anomalies (scoliosis, pectus carinatum, clinodactyly of fingers and toes, among others), and seizures.

The summary has just been updated on Orphanet (ORPHA:530983) – March 2021 and revised by Dr Cyril MIGNOT for ERN ITHACA .

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Microcephalic primordial dwarfism due to RTTN deficiency

A rare, genetic, neurodevelopmental disorder with primordial microcephaly characterized by primary microcephaly, moderate to severe intellectual disability, and global developmental delay. Variable brain malformations are common ranging from simplified gyration, to cortical malformations such as pachygyria, polymicrogyria, reduced sulcation and midline defects. Craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) are related to the primary microcephaly. Short stature is frequently observed, and may be severe.

The summary has just been updated on Orphanet (ORPHA:468631) – March 2021 and revised by Prof. Nadia BAHI-BUISSON  for ERN ITHACA .

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Roifman syndrome

A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.

The summary has just been updated on Orphanet (ORPHA:353298) – March 2021 and revised by Prof. Patrick EDERY  for ERN ITHACA .

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Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome

A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed.
The summary has just been updated on Orphanet (ORPHA:352577) – March 2021 and revised by Dr Irene VALENZUELA for ERN ITHACA .

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Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities, hypoplasia of the corpus callosum and cerebellar hemispheres), musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity), ocular involvement (strabismus, hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures, short stature urogenital malformations, heart defects and gastrointestinal malformations.
The summary has just been updated on Orphanet (ORPHA:500150) – February 2021 and revised by Dr J.M.T. [Jos] DRAAISMA  for ERN ITHACA .

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Meckel syndrome

A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

The summary has just been updated on Orphanet (ORPHA:500150) – February 2021 and revised by Pr Tania ATTIE-BITACH for ERN ITHACA .

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