Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

atypical childhood Hemolytic uremic Distichiasis heart congenital

Cleft lower lip cleft lateral canthi



Distinctive facial appearance

overgrowth in childhood and

immune disorder

chorioretinal degeneration Suprabulbar paresis congenital

learning disabilities or delayed

Nystagmus-associated episodic

Atypical childhood HUS

development absent thumb


ataxia Worster Drought syndrome

atypical HUS Sotos syndrome

overgrowth in childhood and

learning disabilities or delayed

development Distinctive facial

syndrome familial paroxysmal Ataxia Congenital suprabulbar paresis

HUS atypical

appearance Immune thrombocytopenia EA 2 Supraglottic laryngeal cancer

Immune-mediated protracted Acetazolamide-responsive

atypical Hemolytic uremic syndrome Distomatosis

diarrhoea of infancy

episodic ataxia syndrome Supraglottic laryngeal carcinoma

Immuno osseous dysplasia schimke

Cancers of the supraglottic larynx

Hemolytic uremic syndrome atypical Dk phocomelia syndrome type Episodic ataxia with nystagmus region

HUS without a prodrome of

Cerebellar ataxia paroxysmal

enterocolitis and diarrhea

Atypical methylmalonic aciduria with

DKC Schimke syndrome

Acetazolamide-responsive Supravalvar aortic stenosis

progressive encephalopathy

paroxysmal Acetazolamide- susceptibility to 4 Restless legs

microcephaly and cataract

Methylmalonic aciduria microcephaly

Dyskeratosis congenita Immunodeficiency 2

responsive Cerebellar ataxia syndrome


microcephaly and cataract Atypical

DL-ATS Aldrich syndrome Ataxia familial paroxysmal RLS 4

methylmalonic aciduria with

esophageal and vulval with

Cerebellopathy hereditary susceptibility to 6 Restless legs

progressive encephalopathy nephropathy Leiomyomatosis IMD 2



Eczema-thrombocytopenia- hereditary paroxysmal

Atypical mole ATS-DL

Alport syndrome with diffuse

immunodeficiency syndrome Cerebellopathy RLS6

Clark nevus

leiomyomatosis Wiskott Aldrich syndrome Episodic ataxia type 2 PLMS

Diffuse leiomyomatosis in Immunodeficiency due to absence of

Dysplastic nevus

Alport syndrome


Immunodeficiency due to interleukin-

O.I. Periodic limb movements in sleep

1 receptor-associated kinase-4

Susceptibility to chronic infection by

atypical Neurofibromatosis DLBL

deficiency OI64

Epstein-Barr virus

susceptibility to infection by

Neurofibromatosis variant form(s) of Diffuse large B cell lymphoma IRAK4 deficiency

Immunodeficiency due to selective

Brittle bone disease

Mycobacterium tuberculosis

D-minus hemolytic uremic anti-polysaccharide antibody

Neurofibromatosis atypical

syndrome (D-HUS)


immunodeficiency Microcephaly with

Osteogenesis imperfecta SVC syndrome

type 4 of Riccardi Neurofibromatosis dmsmfh

normal intelligence OAFNS SVCS

Bone dysplasia with medullary Immunodeficiency syndrome Oculoauriculofrontonasal

variant form(s) of Neurofibromatosis fibrosarcoma


syndrome SVCO

Atypical osteomalacia involving the

Centromeric instability


axial skeleton DMS-MFH

immunodeficiency syndrome dysplasia Superior vena cava syndrome

Axial osteomalacia BDMF

Diaphyseal medullary stenosis

ICF syndrome OAV SVC obstruction

with malignant fibrous variable Immunodeficiency

Atypical PSP


syndrome Oculoauriculovertebral Superior vena cava obstruction

Progressive supranuclear palsy Bone dysplasia with malignant immunodeficiency syndrome

swelling warmth and stiffness of


fibrous histiocytoma

Centromeric instability


OAV dysplasia

joints Recurrent episodes of pain

Auditory dys-synchrony DNEPPK

instability-facial anomalies syndrome HFM Palindromic rheumatism syndrome

Progressive auditory neuropathy Diffuse nonepidermolytic Immunodeficiency with increased

Recurrent episodes of pain swelling


palmoplantar keratoderma

Thost-Unna palmoplantar

IgM FAv sequence

warmth and stiffness of joints

Auditory neuropathy

Familial auditory neuropathy

keratoderma IMD3 Goldenhar syndrome Palindromic rheumatism

(subtype) PPK diffusa circumscripta Dysgammaglobulinemia type 1 Oculoauriculovertebral spectrum Swimmer's itch

Auditory perceptual impairment Thost-Unna disease Hyper IgM syndrome Facioauriculovertebral sequence Swyer James & McLeod Syndrome

Auditory perceptual disorder Diffuse NEPPK Immunodeficiency-3

Immunodeficiency with natural-killer

OAVS Swyer syndrome

AudryÆs syndrome 1 Dobrow syndrome

cell deficiency Goldenhar disease Sybert Smith syndrome

Dohle leukocyte inclusions with Immunodeficiency with short limb

Touraine-Solente-GolT syndrome giant platelets


Immunologic deficiency

Hemifacial microsomia Sydenham chorea

Macrothrombocytopenia with pancytopenia and cutaneous

Roy-Jutras syndrome

leukocyte inclusions

malignancies Oculoauriculovertebral dysplasia

Obesity due to congenital leptin

St. Vitus dance

Friedreich-Erb-Arnold syndrome May-Hegglin anomaly Fanconi like syndrome

pancytopenia and cutaneous

deficiency Sydenham's chorea

malignancies Immunologic

Obesity due to pro-

Symbrachydactyly of the hand and

Uehlinger's syndrome Dolichocephaly


opiomelanocortin deficiency foot

Nasopharyngeal teratoma dandy

Immunoosseous dysplasia Schimke

Frints De Smet Fabry Fryns

walker diaphragmatic hernia DOLV

type POMC deficiency


Symmetric dyschromatosis of the

Aughton syndrome Double outlet left ventricle Schimke immunoosseous dysplasia Obliterative portal venopathy extremities

Dextrocardia with unusual facies and

Obstructive asymmetric septal Familial reticulate acropigmentation

microphthalmia Dominant cleft palate

Dominant congenital deafness



of Dohi

and progressive optic nerve Immunotactoid or fibrillary



glomerulonephritis Ventricular hypertrophy hereditary Reticulate acropigmentation of Dohi

Deafness optic atrophy Immunotactoid or fibrillary

Idiopathic hypertrophic subaortic Dyschromatosis symmetrica

Auricle defects





Konigsmark Knox Hussels

Hypertrophic subaortic stenosis Dyschromatosis symmetrica

Auriculocondylar syndrome

syndrome Impairment of oral perception idiopathic

hereditaria 1

dominant form

Cardiomyopathy familial

Ears prominent and constricted Pseudoxanthoma elasticum

dominant form Von Willebrand

Disturbance of oral sensitivity hypertrophic DSH

Question mark ear

disease Imperforate anus FHCM DSH1

Imperforate oropharynx costo familial hypertrophic

Auriculoocular anomalies Dominant ichthyosis vulgaris vetebral anomalies

Cardiomyopathy Symmetrical thalamic calcifications

dominant intermediate 3

Symmetrical thalamic degeneration

cleft lip

Charcot-Marie-Tooth disease Impossible syndrome hereditary Ventricular hypertrophy in infants

Impuberism and anovulation due to

Symmetric infantile thalamic

resistance to LH FHC


Auriculoosteodysplasia CMT DI3

Dominant preaxial

brachydactyly with hallux varus


and thumb abduction


Resistance to LH (luteinizing

hormone) IHSS Sympathetic ophthalmia

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