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Table 2 Diagnostic suggestions for the ERN ITHACA CPMS submitted cases (a) Syndromic groups and (b) distinct syndromes. For a few cases there were several suggestions

From: Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders

Holoprosencephaly syndromes
Chromatin remodelling disorders
Blepharophymosis-ID syndromes
RAS-MAPK pathway disorders
Cutis laxa
Mosaic disorders
Neural crest defects
Lamin spectrum disorders
DNA breakage syndromes
Syndrome nameGenePrevalence (Ref[15])Mode of inheritance (Ref[16])
Growth retardation with deafness and mental retardationIGF1 AR
Fabry diseaseGLA1–5 / 10,000XLR
De BarsyALDH18A1< 1 / 1,000,000AR
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delayGFERUnknownMitochondrial
Syndromic microphthalmiaSOX2< 1 / 1,000,000AD
Autoimmune disease, multisystem, infantile-onset, 1STAT3< 1 / 1,000,000AD
Borjeson-Forssman-LehmanPHF6< 1 / 1,000,000XLR
Mental retardation, X-linked 93BRWD3UnknownXLR
Hypomyelinating neuropathy, congenital, 3CNTNAP1UnknownAR
CHARGE syndromeCHD7UnknownAD
Cornelia de Lange syndrome 4RAD211–9 / 100,000AD
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)SCN1AUnknownAD
Glycosylphosphatidylinositol biosynthesis defect 11PIGWUnknownAR
Baller-Gerold s., Rothmund-Thomson s.RECQL4< 1 / 1,000,000AR
LADDFGFR3, FGF10, FGFR2< 1 / 1,000,000AD
Microphthalmia, isolated, with coloboma 8STRA6< 1 / 1,000,000AR
Symmetric circumferential skin creases, congenital, 2MAPRE2UnknownAD
KabukiKMT2D1–9 / 100,000AD
Di George22q11.2del (TBX1)1/4000AD
Hemifacial microsomia 1–9 / 100,000Sporadic, AD
PIK3CA-related overgrowth syndromePIK3CAUnknownMosaic
PfeifferFGFR1, FGFR2< 1 / 1,000,000AD
Restrictive dermopathy, lethalZMPSTE24, LMNA< 1 / 1,000,000AR
CantuABCC9< 1 / 1,000,000AD
IQSEC2-related syndromic intellectual disabilityIQSEC2< 1 / 1,000,000XL