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
(a) | |||
|---|---|---|---|
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 | |||
(b) | |||
Syndrome name | Gene | Prevalence (Ref[15]) | Mode of inheritance (Ref[16]) |
Growth retardation with deafness and mental retardation | IGF1 | AR | |
Fabry disease | GLA | 1–5 / 10,000 | XLR |
Smith-Lemli-Opitz | DHCR7 | Unknown | AR |
Aarskog-Scott | FGD1 | Unknown | XLR |
De Barsy | ALDH18A1 | < 1 / 1,000,000 | AR |
Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay | GFER | Unknown | Mitochondrial |
Syndromic microphthalmia | SOX2 | < 1 / 1,000,000 | AD |
Autoimmune disease, multisystem, infantile-onset, 1 | STAT3 | < 1 / 1,000,000 | AD |
Borjeson-Forssman-Lehman | PHF6 | < 1 / 1,000,000 | XLR |
Mental retardation, X-linked 93 | BRWD3 | Unknown | XLR |
Hypomyelinating neuropathy, congenital, 3 | CNTNAP1 | Unknown | AR |
CHARGE syndrome | CHD7 | Unknown | AD |
Cornelia de Lange syndrome 4 | RAD21 | 1–9 / 100,000 | AD |
Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | SCN1A | Unknown | AD |
Glycosylphosphatidylinositol biosynthesis defect 11 | PIGW | Unknown | AR |
Baller-Gerold s., Rothmund-Thomson s. | RECQL4 | < 1 / 1,000,000 | AR |
LADD | FGFR3, FGF10, FGFR2 | < 1 / 1,000,000 | AD |
ODDD | GJA1 | Unknown | AD |
Microphthalmia, isolated, with coloboma 8 | STRA6 | < 1 / 1,000,000 | AR |
Kunze | TUBB | Unknown | AD |
Symmetric circumferential skin creases, congenital, 2 | MAPRE2 | Unknown | AD |
Kabuki | KMT2D | 1–9 / 100,000 | AD |
Di George | 22q11.2del (TBX1) | 1/4000 | AD |
Hemifacial microsomia | 1–9 / 100,000 | Sporadic, AD | |
PIK3CA-related overgrowth syndrome | PIK3CA | Unknown | Mosaic |
Pfeiffer | FGFR1, FGFR2 | < 1 / 1,000,000 | AD |
Restrictive dermopathy, lethal | ZMPSTE24, LMNA | < 1 / 1,000,000 | AR |
Hallermann-Streiff | Unknown | Unknown | Unknown |
Cantu | ABCC9 | < 1 / 1,000,000 | AD |
Pitt-Hopkins | TCF4 | Unknown | AD |
IQSEC2-related syndromic intellectual disability | IQSEC2 | < 1 / 1,000,000 | XL |