Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

syndrome camptodactyly syndrome monosomy

ACHL familial Fibrosing serositis Haemophilus influenzae Monosomy 18q deletion 18q Radiation myelitis

Esophageal achalasia Jacobs syndrome

Congenital familial protracted

diarrhea with enterocyte brush-

H. influenzae Chromosome 18q syndrome Robin sequence


border abnormalities H4 monosomy 18Q Chromosome 18 Toriello-Carey syndrome

Achondrogenesis Fraccaro type congenital Microvillus atrophy Hepatocellular cancer deletion 18q Monosomy 18q Robin sequence oligodactyly

Fraccaro achondrogenesis Microvillus inclusion disease HCC 18q syndrome Pierre robin syndrome oligodactyly

Chromosome 18 deletion Robin sequence with facial and

Achondrogenesis type 1B Intractable diarrhea of infancy adult Liver cancer


digital anomalies

Chitayat Meunier Hodgkinson

acg1b Davidson disease Liver cancer adult Monosomy 18q syndrome syndrome

Fraccaro type Achondrogenesis Microvillus atrophy congenital adult Liver cell carcinoma Chromosome 18 monosomy 18Q Robinow syndrome

Achondrogenesis Houston-Harris Congenital fiber type

monosomy 1p22 p13


disproportion Hepatoma

Chromosome 1 Robinow-like syndrome

Houston-Harris achondrogenesis CFTD Liver cell carcinoma adult Monosomy 1p22 p13 Saal-Greenstein syndrome

Houston-Harris type

congenital Fibrinogen


deficiency H9 Deletion 1p22 p13 Robinow-Sorauf syndrome

congenital Finnish type

Robinow-Sorauf type

Achondrogenesis type 1A

Nephrosis 1 hereditary capillary Hemangioma Monosomy 1p36 syndrome Acrocephalosyndactyly

1p36 deletion syndrome

Craniosynostosis-bifid hallux

ACG1A Nephrosis congenital

Nephrosis 1 congenital Finnish

Hemangioma hereditary capillary Chromosome 1


Achondrogenesis type 2

type HCI 1p36 deletion syndrome Robinow Sorauf syndrome

Finnish type Congenital

Acrocephalosyndactyly Robinow-

Chondrogenesis imperfecta

nephrotic syndrome capillary infantile Hemangioma Monosomy 1q32 q42

Sorauf type

Langer-Saldino type

Congenital nephrotic syndrome


1 Haas-Robinson syndrome Deletion 1q32 q42

monosomy 1q32 q42

Robinow-Unger syndrome

ACG2 congenital Nephrosis Habrodysplasia

Chromosome 1 cranial sclerosis

Achondrogenesis Langer-Saldino

Hyperostosis generalisata with

type Finnish congenital nephrosis

Congenital generalized

Osteocraniosplenic syndrome Monosomy 20p


Achondrogenesis-Kozlowski type fibromatosis

Congenital generalized

follicular hamartoma

Gracile bone dysplasia Deletion 20p Osteopathia striata

associated with alopecia and lethal with gracile bones Skeletal

Chondrodysplasia lethal neonatal cystic fibrosis

dysplasia deletion 20p Chromosome 20 Robinson Miller Bensimon syndrome

Familial ectodermal dysplasia with

Follicular hamartoma alopecia Skeletal dysplasia lethal with gracile

sensori-neural deafness and other

lethal neonatal Chondrodysplasia cystic fibrosis

bones Monosomy 20pter


Congenital generalized

Deafness and onychodystrophy

Kozlowski Tsuruta Taki syndrome lipodystrophy type 1 Osteocraniostenosis Distal deletion 20p

dominant form

Achondroplasia and Swiss type Berardinelli-Seip congenital

dominant form Deafness and


Agammaglobulinaemia and

lipodystrophy type 1 Haemochromatosis Distal monosomy 20p


achondroplasia Congenital giant megaureter Hemochromatosis Telomeric deletion 20p Rocher-Sheldon syndrome

Arthrogryposis multiplex congenita

Achondroplastic dwarfism congenital Glaucoma

congenital Glutamine

Haemoglobin D disease Monosomy 21




congenital systemic Glutamine

Haemoglobinemia M21 Otto syndrome


synthase deficiency Hemoglobinemia Chromosome 21 monosomy GuTrin-Stern syndrome

Glutamine synthase deficiency Haemolytic anaemia due to monosomy 21q22 Chromosome


congenital systemic

glutathione reductase deficiency 21 Rossi syndrome

Roch-Leri mesosomatous

Achromatopsia 1 Congenital heart block

Familial congenital heart block

Haemolytic uremic syndrome Monosomy 21q22


Rod monochromatism


Congenital complete heart

Haemorragic fever Deletion 21q22 Roch-Leri syndrome


block (subtype)

Congenital heart disease

deafness and skeletal

renal syndrome Monosomy 22 Rocky Mountain spotted fever



conductive deafness and

fusion of cervical vertebrae and

of carpal and tarsal bones

Haemorrhagic proctocolitis Monosomy 2p22 RMSFP

Rod monochromacy

Mitral regurgitation

Mitral regurgitation conductive

deafness and fusion of cervical

Hemorrhagic proctocolitis Deletion 2p22 ROD

vertebrae and of carpal and Haemorrhagiparous thrombocytic

Acid maltase deficiency

tarsal bones

deafness and skeletal

dystrophy monosomy 2p22 Chromosome 2 Renal osteodystrophy

malformations Congenital heart

monosomy 2pter p24

Cardiomegalia glycogenica diffusa disease Bernard-Soulier syndrome

Chromosome 2 Rod monochromacy 2

Cardiac form of generalized

Forney Robinson Pascoe



Congenital heart disease

Hailey Hailey disease Monosomy 2pter p24 ACHM2

Glycogen storage disease type 2 ptosis hypodontia craniostosis

Congenital heart disease radio

ulnar synostosis mental

Benign chronic pemphigus Deletion 2pter p24 Achromatopsia 2

Acinar cell carcinoma

retardation Benign familial pemphigus monosomy 2q24 Chromosome 2 Rod monochromatism 2

Acinar carcinoma Congenital heart septum defect

Congenital Hemidysplasia with

Ichthyosiform erythroderma

Hailey-Hailey disease Monosomy 2q24 RMCH2

Acinic cell tumor

and Limbs Defects Haim-Munk syndrome

Keratosis palmoplantaris with

periodontopathia and

Deletion 2q24 Total color blindness

AciCC Congenital hepatic fibrosis

congenital hereditary

onychogryposis Monosomy 2q37 Rod myopathy

Acinar cell adenocarcinoma endothelial Corneal dystrophy Cochin Jewish disorder monosomy 2q37 Chromosome 2 Rodini Richieri Costa syndrome

Corneal endothelial dystrophy

Rodriguez lethal acrofacial

Acinic cell carcinoma

type 2 hair abnormality

hair and nail disorders

Epidermolysis bullosa simplex

Deletion 2q37

dysostosis syndrome

Serous acinar adenoma Maumenee corneal dystrophy localisata associated with anodontia

late-onset localized junctional with

mental retardation Epidermolysis

Monosomy 2q37-qter Acrofacial dysostosis Rodriguez type

Acinic cell adenocarcinoma CHED2

bullosa Monosomie 2q37-qter Roifman syndrome


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