Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

Cleft nare brachydactyly short Congenital fissure of the

retardation syndrome

Stocco dos Santos type Mental

Anencephaly and spina bifida X-


abdominal cavity

retardation Rapadilino syndrome


brachydactyly short stature/dwarfism

Mental retardation syndrome

Cleft nare Gaucher disease

Mietens Weber type Radial and patellar hypoplasia X-linked Angioma serpiginosum

Kyphosis brachyphalangy optic Gaucher ichthyosis restrictive Mietens Weber type Mental



retardation syndrome Radial deficiency tibial hypoplasia Angioma serpiginosum

radial hypoplasia bifid thumb X-linked associated with fragile site

cleft palate Gaucher-like disease Mietens-Weber syndrome

unusual facies Mesomelia

skeletal abnormalities and

Mental retardation

Mental retardation Mietens Weber ectodermal dysplasia Mesomelic

CL (P) Pseudo Gaucher disease type

mental retardation tapetoretinal

dwarfism Fragile site mental retardation 2

cleft palate and conotruncal cardiac

degeneration and progressive Mesomelic dwarfism skeletal

defect Male pseudohermaphroditism Gay feinmesser cohen glomerulopathy Absence of the abnormalities and ectodermal

with micrognathia


cerebellar granular layer

dysplasia FRAXE

Genitopalatocardiac syndrome GCM syndrome Oculorenocerebellar syndrome Brunoni syndrome X fragile site folic acid type

Gorlin Chaudhry Moss

Mesomelia radial hypoplasia bifid Mental retardation X-linked

Gardner-Silengo-Wachtel syndrome syndrome ORC syndrome

Absence of the cerebellar granular

layer mental retardation tapetoretinal

thumb unusual facies

associated with fragile site

Gorlin-Chaudhry-Moss degeneration and progressive

Genito palato cardiac syndrome

Male pseudohermaphroditism with


glomerulopathy Radial ray agenesis X-linked Ataxia-deafness syndrome

micrognathia cleft palate and

Radial ray hypoplasia choanal

conotruncal cardiac defect GCS 1 Mental retardation unusual facies atresia X-linked 3 Spinocerebellar ataxia

Cleft palate cardiac defect

Facio-thoraco-skeletal Mental retardation unusual facies



and intrauterine growth retardation

unusual facies and intrauterine

Radiation induced brachial neuritis SCAX3

Guadalajara camptodactyly growth retardation Mental

Radiation injury to the brachial

cleft palate- clubfoot



plexus X-linked Ataxia-dementia syndrome

Camptodactyly syndrome

Radiation induced brachial


Guadalajara type 1 Pitt Rogers Danks syndrome plexopathy SCAX4

Cleft palate colobomata radial Guadalajara camptodactyly

synostosis deafness

syndrome type 1 Pitt syndrome

Mental retardation unusual facies

Radiation induced meningioma Ataxia-dementia syndrome X-linked

cleft palate- hallux valgus GD 1

talipes hand anomalies MNRI X-linked 4 Spinocerebellar ataxia

Cleft palate heart disease polydactyly noncerebral juvenile Gaucher Mental retardation with absent fifth

absent tibia

Cleft palate lateral synechia


fingernail and terminal phalanx Radiation proctitis X-linked Bulbospinal amyotrophy

syndrome Gaucher disease type 1 Coffin-Siris syndrome Radiation related neoplasm X-linked cleft palate

Cleft palate short stature vertebral Acid beta-glucosidase


deficiency Fifth digit syndrome Radiation induced cancer Cleft palate X-linked

X-linked cone dystrophy

characterized by a peculiar greenish-

Cleft palate stapes fixation

Mental retardation with patellar

golden tapetal-like sheen of large

oligodontia GBA DEFICIENCY

hypoplasia and luxation Radiation-induced cancer areas of the retina

Patella hypoplasia mental

x-linked with tapetal-like sheen Cone

Cleft sternum Glucocerebrosidase deficiency retardation

Mental retardation x linked

Radiation related cancer


Gaucher disease noncerebral borderline maoa metabolism

X-linked creatine deficiency

Sternum bifidum


anomaly Radio digito facial dysplasia syndrome

Mental retardation X-linked with

Mental retardation X-linked Abidi

seizures short stature and midface

Cleft tongue syndrome gdld

type Radio-renal syndrome


X-linked with seizures short stature

Cleft upper lip median cutaneous

Abidi type Mental retardation X-

and midface hypoplasia Mental

polyps Amyloidosis corneal

linked Radio renal syndrome


Gelatinous drop-like corneal

X-linked creatine transporter

Cleidocranial digital dysostosis dystrophy MRXSAB Radio-ulnar synostosis

Radioulnar synostosis and a


Abidi X-linked mental retardation typical rhomboid shape of the tibia

Cleidocranial dysostosis corneal Amyloidosis


Mental retardation X-linked

and fibula X-linked Creatine deficiency

Japanese type Amyloid corneal borderline Maoa metabolism

X-linked with creatine transport

Cleidocranial dysplasia


anomaly Nievergelt syndrome

deficiency Mental retardation


Mental retardation X-linked Brunner Mesomelic dwarfism Nievergelt Mental retardation X-linked with

syndrome Lattice corneal dystrophy type3 type


creatine transport deficiency

Primary familial amyloidosis of Mental retardation X-linked Radioulnar synostosis retinal X-linked Deafness mixed with


the cornea


pigment abnormalities

perilymphatic Gusher

Lattice type 3 Corneal Mental retardation X-linked dystonia

Marie-Sainton syndrome


dysarthria Radio-ulnar synostosis type 2

Fusion just distal to the proximal

radial epiphysis in association with

X-linked DFN Deafness

Mental retardation X-linked short congenital dislocation of the radial X-linked Dyggve-Melchior-Clausen

CLH Syndrome GDCD

stature obesity



Cleft Limb Heart Malformation Amyloid corneal dystrophy Mental retardation X-linked Radius absent anogenital Dyggve-Melchior-Clausen syndrome


Japanese type

syndromic 1

Mental retardation-dystonic


X linked

Verloove Vanhorick Brubakk Corneal dystrophy Lattice type movements-ataxia-seizures



syndrome X-linked Radial aplasia Dyggve-Melchior-Clausen syndrome

clinically undefinite Mitochondrial

X-linked syndromic 1 Mental

diseases CDGDL

retardation Radial aplasia X-linked DMCS

Geen sandford davison Partington X-linked mental

X-linked fatal infantile

Cloacal exstrophy


retardation syndrome RAE


Clostridium sordellii toxic shock Gelastic seizures with


hypothalamic hamartomas Partington syndrome Reactive angioendotheliomatosis X-linked Fetal akinesia syndrome

Brain malformation growth

retardation hypokinesia and

Clostridium sordellii Gelatinous ascites MRXS1 Raine syndrome


Cloverleaf skull micromelia thoracic

Mental retardation X-linked with Lethal osteosclerotic bone growth retardation hypokinesia and

dysplasia Geleophysic dysplasia marfanoid habitus


polyhydramnios Brain malformation

Micromelic bone dysplasia with

X-linked with marfanoid habitus

X-linked form of fetal akinesia

cloverleaf skull Geleophysic dwarfism Mental retardation Rajab-Spranger syndrome syndrome

CLT Gelineau disease Lujan Fryns syndrome

Mental retardation-deafnes skeletal

Rambam Hasharon syndrome Fetal akinesia syndrome X-linked

abnormalities coarse face with full type 2C Congenital disorder of

Hashimoto's syndrome Narcolepsy-Cataplexy lips

glycosylation X-linked Hypodontia

X-linked Hypogonadotropic

Chronic Thyroiditis Gelineau's syndrome Fountain syndrome CDG 2C

hypogonadism without anosmia


More magazines by this user
Similar magazines