Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

nevus epibulbar dermoid mental retardation growth failure

cleft lip palate

Multiple congenital anomalies

autosomal dominant Peroneal severe psychomotor retardation

Craniosynostosis fibular muscular atrophy with pyramidal and symmetrical circumferential

Adult T-cell leukaemia/lymphoma aplasia


skin creases of arms and legs

severe psychomotor retardation

and symmetrical circumferential


adult type Neuronal ceroid

Craniosynostosis Fontaine Hereditary motor and sensory skin creases of arms and legs



neuropathy LOM type

Multiple congenital anomalies Diabetic fibrous breast disease

Craniosynostosis herrmann

Sclerosing lymphocytic lobulitis of

Amaurotic idiocy adult type

opitz type

Craniosynostosis Maroteaux

CMT4D Elliott Ludman Teebi syndrome the breast


Fonfria type NMSL Multiple congenital contractures Lymphocytic mastitis

Craniosynostosis mental Type 4D Charcot-Marie-Tooth

Kufs disease autosomal recessive retardation clefting syndrome Disease Multiple endocrine abnormalities Sclerosing Mesenteritis

Craniosynostosis mental LOM type Hereditary motor and

adult type Amaurotic idiocy

retardation heart defects sensory neuropathy adenylyl cyclase dysfunction SCN

Neuronal ceroid lipofuscinosis adult Craniosynostosis Philadelphia hereditary motor and sensory LOM Multiple endocrine neoplasia type



type Neuropathy

3 (formerly) IGA

Craniosynostosis radial aplasia Charcot-Marie-Tooth Disease Type

Kufs disease




Mucosal neuroma syndrome Kostmann disease

Craniosynostosis with radial SENSORY NEUROPATHY

neuronal 4 Ceroid lipofuscinosis defects




MEN2B kostmann syndrome

Adult-onset citrullinemia type II Baller-Gerold syndrome NEUROPATHY Wagenmann-froboese syndrome

type 3 (formerly) Multiple

Severe congenital neutropenia

Adult-onset citrullinemia type 2 bgs HMSNO

endocrine neoplasia infantile genetic Agranulocytosis

Craniosynostosis radial aplasia hereditary motor and sensory type 2B Multiple endocrine Autosomal dominant or sporadic

Adult-onset spinal muscular atrophy type Imaizumi

Okinawa type Neuropathy

Hereditary motor and sensory


congenital neutropenia

Muscular atrophy adult spinal Imaizumi Kuroki syndrome

Craniosynostosis synostoses

neuropathy type 3 Multiple epiphyseal dysplasia 5 KD

Spinal muscular atrophy 4

hypertensive nephropathy Hypertrophic neuropathy of infancy multiple 5 Epiphyseal dysplasia Agranulocytosis infantile genetic

Hereditary motor and sensory MATN3 related Multiple epiphyseal scoliosis and retinitis pigmentosa

Adult spinal muscular atrophy Craniosynostosis Warman type neuropathy type 4


Rhizomelic dysplasia

Craniosynostosis-radial aplasia

Multiple epiphyseal dysplasia

Advanced sleep phase syndrome syndrome Hereditary mucoepithelial dysplasia MATN3 related Scoliosis as part of NF

Multiple epiphyseal dysplasia with Scoliosis congenital with unilateral

Aerobic actinomyces infection Craniotubular syndrome Urban Schosser Spohn syndrome clubfoot

unsegmented bar

Hereditary multiple diaphyseal

congenital with unilateral

AFA syndrome Tubular dysplasia

sclerosis multiple 4 Epiphyseal dysplasia unsegmented bar Scoliosis

Spondylocarpotarsal synostosis

Thick lips and oral mucosa Crawfurd syndrome Diaphyseal sclerosis multiple Multiple epiphyseal dysplasia 4 syndrome

Acromegaloid facial appearance

Autosomal recessive multiple

syndrome CRBM Ribbing disease

epiphyseal dysplasia

Multiple epiphyseal dysplasia

Synspondylism congenital

Afibrinogenemia Cherubism multiple Diaphyseal sclerosis autosomal recessive

Multiple epiphyseal dysplasia with

Spondylocarpotarsal synostosis

Congenital afibrinogenaemia Creatine deficiency Hereditary multiple trichodiscomas bilayered patellae Vertebral fusion with carpal coalition

Small benign fibrovascular tumor of Multiple epiphyseal dysplasia with

Afibrinogenemia congenital Creatine transporter deficiency the dermal part of the hair disk double-layered patella congenital Synspondylism

Scoliosis with unilateral

African sleeping sickness Creeping disease Familial multiple trichodiscomas multiple Exostoses

unsegmented bar

Agammaglobulinemia autosomal

Hereditary myopathy with


non-Bruton type

Cretinism athyreotic

intranuclear filamentous Multiple fibrofolliculoma familial S-cone Monochromatism

Agammaglobulinemia Creutzfeldt Jakob disease Hereditary nodular heterotopia Multiple hamartoma syndrome Achromatopsia incomplete

Agammaglobulinemia due to early

Hereditary nonpolyposis colorectal

proB cell defect Acquired CJD (subtype) cancer Cowden's disease Scott syndrome

autosomal recessive

Colorectal cancer hereditary

Agammaglobulinemia Sporadic CJD (subtype) nonpolyposis Cowden disease SCPD

Agammaglobulinemia BTK Creutzfeldt Jacob disease HNPCC

Lynch syndrome I (site-specific

MHAM sneddonwilkinson disease

BTK Agammaglobulinemia Hereditary CJD (subtype) colonic cancer) - subtype

Hereditary nonpolyposis colorectal

cowden's syndrome Pustulosis subcornealis

Bruton type agammaglobulinemia Cribriform carcinoma

neoplasms Multiple hereditary exostoses Subcorneal pustular dermatosis

Hereditary nonpolyposis colon Multiple joint dislocations

B cell progenitor kinase Adenocystic carcinoma cancer

Lynch syndrome II (colonic cancer in

metaphyseal dysplasia SDCP

Agammaglobulinemia Bruton tyrosine

association with other forms of

kinase Adenoid cystic carcinoma cancer) - subtype multiple malformations X-linked spastic diplegic Cerebral palsy

Bruton tyrosine kinase

hereditary nonpolyposis type 1


Bruton-type (congenital X-linked)


Colorectal cancer Tetraamelia Spastic diplegia cerebral palsy

agammaglobulinemia Crisponi syndrome FCC1 multiple malformations

Multiple non-erupting teeth

Sea-Blue histiocyte disease

Crohn's disease of the

maxillo-zygomatical hypoplasia

Agammaglobulinemia Swiss type esophagus COCA1

and other congenital defects Histiocytosis sea-Blue

Colon cancer familial nonpolyposis Non erupted teeth with maxillary

SCID Cronkhite canada syndrome type 1

hypoplasia and genu valgum

maxillo-zygomatical hypoplasia

Sea-Blue histiocytosis

Severe combined immunodeficiency

and other congenital defects

alymphocytotic type Cronkhite-Canada disease Lynch syndrome I

Multiple non-erupting teeth Seaver cassidy syndrome

alymphocytotic type Severe

Stoelinga de Koomen Davis

combined immunodeficiency Crossed polydactyly HNPCC1

syndrome Sebastian platelet syndrome

familial nonpolyposis type 1 Colon Multiple ophthalmic anomalies and

Swiss type Agammaglobulinemia Crossed polydactyly type 1 cancer

digital hypoplasia

Multiple pituitary hormone

Sebastian syndrome

Hereditary non-spherocytic deficiency without associated

Severe combined immunodeficiency Crossed polysyndactyly

Crouzon craniofacial

hemolytic anemia

malformations Sebocystomatosis

Bubble boy disease

Severe combined immunodeficiency

dysostosis HNSHA CPHD Disseminated sebocystomatosis

due to adenosine deaminase

Combined pituitary hormone

deficiency Craniofacial dysostosis type 1 Hereditary ochronosis

deficiency Secernentea Infections

Hereditary paroxysmal cerebral Multiple sclerosis ichthyosis factor Seckel like syndrome majoor

Agammaglobulinemia X-linked Crouzon disease


8 deficiency

krakauer type

BTK-deficiency CFD 1 Hereditary peripheral nervous Multiple skeletal abnormalities with Seckel like syndrome type buebel


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