New Orphanet summaries updated by ERN ITHACA Experts

A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.
The summary has been updated on Orphanet (ORPHA:464738) – December 2020 and revised by  Dr Benedetta CAVIRANI and Dr Livia GARAVELLI for ERN ITHACA.

A rare genetic multisystem disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

The summary has been updated on Orphanet (ORPHA:84) – December 2020 and revised by Dr Thierry LEBLANC for ERN ITHACA.

A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).

The summary has been updated on Orphanet (ORPHA:319671) – December 2020 and revised by Dr Stefano Giuseppe CARAFFI and Dr Livia GARAVELLI for ERN ITHACA.

A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the SLC39A13 gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.

The summary has been updated on Orphanet (ORPHA:157965) – December 2020 and revised by Dr Livia GARAVELLI – Dr Gabriele TRIMARCHI for ERN ITHACA.

A rare congenital disorder of copper metabolism that is principally characterized by bony exostoses (including the pathognomonic occipital horns), and connective tissue manifestations with cutis laxa and bladder diverticula. Central nervous system involvement is variable.

The summary has been updated on Orphanet (ORPHA:198) – December 2020 and revised by Pr Zeynep TÜMER for ERN ITHACA, and Pr Bert CALLEWAERT for ERN Skin.

A rare congenital disorder of copper metabolism with severe multisystemic manifestations that are primarily characterized by progressive neurodegeneration and marked connective tissue anomalies. A pathognomonic feature is the typical sparse, abnormal steely hair.

The summary has been updated on Orphanet (ORPHA:565) – December 2020 and revised by Pr Zeynep TÜMER for ERN ITHACA, and Pr Bert CALLEWAERT for ERN Skin.

A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.

The summary has been updated on Orphanet (ORPHA:536467) – December 2020 and revised by Dr Stefano Giuseppe CARAFFI and Dr Livia GARAVELLI  for ERN ITHACA.

A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.

The summary has been updated on Orphanet (ORPHA:75496) – December 2020 and revised by Dr Gianluca CONTRO and Dr Livia GARAVELLI for ERN ITHACA.

A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosenphaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.

The summary has been updated on Orphanet (ORPHA:2117) – December 2020 and revised by Dr Catheline VILAIN  for ERN ITHACA.

A rare ectodermal dysplasia syndrome characterized by the association of lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.

The summary has been updated on Orphanet (ORPHA:1997) – December 2020 and revised by Dr Jamal GHOUMID and Pr Florence PETIT   for ERN ITHACA.

A rare, genetic language disorder characterized by the core phenotype of childhood apraxia of speech (CAS) while also further aspects such as receptive and expressive language impairment or oral motor dyspraxia often occur.

The summary has been updated on Orphanet (ORPHA:209908) – December 2020 and revised by Dr Melissa RIEGER and Pr Christiane ZWEIER for ERN ITHACA

A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.

The summary has been updated on Orphanet (ORPHA:363611) – December 2020 and revised by Dr Sarah SCHUHMANN and Pr Christiane ZWEIER for ERN ITHACA