New Oprhanet summaries reviewed by ITHACA experts

Holoprosencephaly : 

Disease definition : A rare complex brain malformation characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.

The summary has just been updated on Orphanet (ORPHA:2162) – November 2020 and revised by Dr Christèle DUBOURG – Dr Alinoë LAVILLAUREIX – Pr Sylvie ODENT | ITHACA*

L1 syndrome : 

Disease definition : A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.

The summary has just been updated on Orphanet (ORPHA:275543) – November 2020 and revised by Pr C.T.R.M. [Connie] STUMPEL | ITHACA* – Dr Y.J. [Yvonne] VOS – Last update: November 2020

Simpson-Golabi-Behmel syndrome : 

Disease definition :A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

The summary has just been updated on Orphanet (ORPHA:373) – November 2020, and revised by Pr Pablo LAPUNZINA | ITHACA* – Dr Jair Antonio TENORIO CASTAÑO

Freeman-Sheldon syndrome

Disease definition : A rare congenital, distal arthogryposis syndrome characterized by microstomia, whistling-face appearance, Chin with V- or H- shaped creased, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis.

The summary has just been updated on Orphanet (ORPHA:2053) – November 2020, and revised by Dr Valeria CAPRA | ITHACA* – Dr Gianluca PICCOLO – Dr Marcello SCALA

Developmental delay-facial dysmorphism syndrome due to MED13L deficiency

Disease definition : A rare, genetic syndromic intellectual disability characterized by developmental delay, mild to severe intellectual disability, facial features (bulbous nasal tip, and macroglossia, macrostomia, or open mouth appearance) and a wide spectrum of other nonspecific variable clinical features.

The summary has just been updated on Orphanet (ORPHA:369891) – November 2020, and revised by Dr Jamal GHOUMID | ITHACA* – Dr Thomas SMOL | ITHACA*

Noonan syndrome-like disorder with loose anagen hair

Disease definition : A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or ichtyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.

The summary has just been updated on Orphanet (ORPHA:2701) – November 2020, and revised byPr Laura MAZZANTI | ITHACA* – Dr Annamaria PERRI – Dr Emanuela SCARANO – Dr Federica TAMBURRINO