Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

defects dysmorphia pelvic dysplasia absent

Fibulo ulnar hypoplasia renal


Choked disk


Fibuloulnar aplasia or

Mandibuloacral dysplasia Monomodal visual amnesia Vibrio vulnificus infection

hypoplasia with renal

Mandibuloacral dysplasia with type



B lipodystrophy Visual amnesia Vibrios (other than Vibrio cholerae)

Fiessinger-Leroy-Reiter's Lipodystrophy type B associated

Edema of the optic disc


with mandibuloacral dysplasia

type B associated with

Primerose syndrome Viljoen Kallis Voges syndrome

mandibuloacral dysplasia

Primordial microcephalic dwarfism

Choledochal cyst Fifth Disease


Crachami type Viljoen Smart syndrome

Congenital choledochal cyst Parvovirus antenatal infection Mandibulofacial dysostosis Primrose syndrome

muscle wasting and bony changes

Viljoen Winship syndrome

Maternofetal infection by Treacher Collins-Franceschetti Ossified ear cartilages with mental

Bile duct cysts




Ossified ear cartilages with mental

Viljoen-Kallis-Voges syndrome

Parvovirus B19 antenatal

deficiency muscle wasting and


infection Treacher Collins syndrome

bony changes Viljoen-Smart syndrome

Choledochal cyst hand malformation Fifth toe double nails tcof

mandibulofacial dysostosis

Prinzmetal angina ectrodactyly of lower limbs

Cholelithiasis with ABCB4 gene

microcephaly and cleft palate

mutation Double nails on the fifth toe Growth and mental retardation Prinzmetal's variant angina prognathism

Cholemia double nails Fifth toe Mannosidosis alpha B lysosomal

Lysosomal alpha-D-mannosidase

Variant angina Viral hemorrhagic fever

Cholera Fingerprints absence

deficiency PRLoma Viral vasculitis not HBV and HCV

Cholestasis fatal intrahepatic congenital milia Alpha mannosidase B deficiency Pituitary lactotrophic adenoma Virilizing ovarian tumor

Progressive familial intrahepatic

Virus associated hemophagocytic

cholestasis Baird syndrome

Fingerprints absence

alpha B lysosomal Mannosidosis Lactotroph adenoma


fatal intrahepatic Cholestasis syndactyly milia Alpha-mannosidosis type 1 Prolactinoma Visceral larva migrans syndrome

progressive familial intrahepatic 1 Finnish lethal neonatal


metabolic syndrome Manouvrier syndrome Proctitis Ocular larva migrans

Lung agenesis heart defect thumb

Toxocara canis infection (canine

PFIC Fellman syndrome


Pulmonary aplasia and triphalangia




of the thumb Hutchinson Gilford syndrome Visceral larva migrans

Hutchinson Gilford progeria Toxocara catis infection (feline

ByD GRACILE syndrome Mansonelliasis



Progeria variant syndrome Human infection with the larvae of

Byler's disease Finnish type amyloidosis Mansonella perstans infections Ruvalcaba type

canine or feline roundworms

Amyloid cranial neuropathy

Visceral myopathy familiail external

Byler disease

with lattice corneal dystrophy Mansonellosis Progeroid syndrome of De Barsy

Corneal clouding cutis laxa mental


Cholestasis lymphedema syndrome Meretoja type amyloidosis Mantle cell lymphoma


De Barsy Moens Diercks

Visceral neuropathy

Lymphedema - cholestasis syndrome Amyloidosis 5 Mantle-Cell Lymphoma

syndrome brain anomalies

Amyloidosis due to mutant

Progeroid variant of Ehlers-Danlos

Aagenaes syndrome

gelsolin Lymphoma Mantle-Cell

syndrome Viscero-atrial heterotaxia

Finnish type Multiple

defective biosynthesis of


contracture syndrome Manz syndrome

Polyuria nystagmus and recurrent

episodes of tetany with radiological

Proteodermatan sulfate Vitamin A embryopathy

Cholestasis pigmentary retinopathy Lethal congenital contracture evidence of rickets and

cleft palate

syndrome 1


nystagmus and recurrent episodes

PDS defective biosynthesis of Vitamin b1 deficiency

Lethal autosomal recessive of tetany with radiological evidence

Cholestasis-pigmentary retinopathy- syndrome of multiple

of rickets and nephrocalcinosis Xylosylprotein 4-betacleft

palate syndrome

congenital contractures Polyuria

galactosyltransferase deficiency Thiamine deficiency

Familial hypomagnesemia -

Vitamin K antagonists

Hardikar syndrome Finucane kurtz scott syndrome hypercalciuria Galactosyltransferase 1 deficiency embryofoetopathy

Map-dot-fingerprint dystrophy of

Embryofoetopathy due to vitamine K

Cholestatic jaundice Fish myxosporean parasites cornea defective biosynthesis of PDS antagonists

Vitelliform macular dystrophy

renal tubular insufficiency Henneguya salminicola Microcystic dystrophy of the cornea XGPT deficiency

Proteodermatan sulfate defective


ChJ Myxosporea MDFD

biosynthesis of

progeroid form Ehlers-Danlos

atypical vitelliform Macular dystrophy

Biliary tract malformation Fish odor syndrome Cogan corneal dystrophy

syndrome vitiligo

epithelial basement membrane

Vitiligo mental retardation facial

Lutz-Richner-Landolt syndrome Fish malodor syndrome Corneal dystrophy Dermatan sulfate proteoglycan dysmorphism uremia

Vitiligo vulgaris cleft palate somatic

Cholestatic jaundice renal tubular

Corneal dystrophy anterior

and psychomotor retardation and

insufficiency Trimethylaminuria

basement membrane Prognathism dominant

facial dysmorphism

Cholesterol ester hydrolase

anterior basement membrane

Schrander-Stumpel Theunissen

deficiency TMAuria

Corneal dystrophy Progressive acromelanosis Hulsmans syndrome

Progressive anterior vertebral cleft palate somatic and psychomotor

body fusion overgrowth and retardation and facial dysmorphism

Wolman disease Fissured tongue Cogan type Corneal dystrophy distinct craniofacial appearance

overgrowth and distinct

craniofacial appearance

Vitiligo vulgaris

Fistulous vegetative verrucous

Progressive anterior vertebral Vitiligo psychomotor retardation cleft

LAL Deficiency

hydradenoma Corneal dystrophy Cogan type body fusion

palate and facial dysmorphism

Acid cholesteryl ester hydrolase

Radiculomegaly of canine teeth

psychomotor retardation cleft palate

deficiency Wolman type Fitz-Hugh-Curtis syndrome congenital cataracts Vertebral body fusion overgrowth and facial dysmorphism Vitiligo

Cholesteryl ester storage disease Perihepatitis Syndrome Marble brain disease Progressive autonomic failure Vitreoretinal degeneration

Wolman type Acid cholesteryl ester Fitzsimmons Walson Mellor Osteopetrosis with renal tubular

hydrolase deficiency


acidosis Idiopathic orthostatic hypotension Vitreoretinochoroidopathy


Multiple system atrophy (MSA)

LIPA deficiency

Gilbert syndrome

Mental retardation with spastic

paraplegia and palmoplantar

Guibaud Vainsel syndrome with orthostatic hypotension VKC

Lysosomal acid lipase deficiency hyperkeratosis

Fixation of the scapula to the

Carbonic anhydrase 2 deficiency Orthostatic hypotension Vernal keratoconjunctivitis

type 2 Acid cholesteryl ester first rib by a congenitally short

hydrolase deficiency

costocoracoid ligament

Costocoracoid ligament

Marburg virus disease IOH VKH syndrome

Acid lipase disease

congenitally short Marburg disease PAF Vogt-Koyanagi-Harada syndrome

Acid cholesteryl ester hydrolase Congenital shortness of the

deficiency type 2

costocoracoid ligament Marburg hemorrhagic fever Hypotension orthostatic VLCADD

Cholesterol ester storage disease Fixed subaortic stenosis Marchiafava-Micheli disease OH VLCAD deficiency


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