Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar


Fabio Pammolli, Massimo Riccaboni, Laura Magazzini, Mark Supekar

characteristic ear shape and short



dysplasia short stature and

developmental delay

to 5-alpha-reductase deficiency mental retardation syndrome

Familial incomplete male


Charcot disease Femoral-facial syndrome Macroglossia dominant

pseudohermaphroditism type 2 syndrome


syndrome associated with

Femur bifid with

Pseudovaginal perineoscrotal sensorineural hearing loss hematuria

Lou-Gehrig disease

monodactylous ectrodactyly Macrogyria pseudobulbar palsy hypospadias

and cleft lip/palate

type 2 Familial incomplete male cleft lip/palate and mental retardation

Charcot Marie Tooth disease Gollop-Wolfgang complex macro-orchidism


syndrome Coloboma

hematuria and cleft lip/palate

femur fibula and ulna with


abnormal digits and nails

syndrome associated with


Aplasia/hypoplasia of pelvis Johnson syndrome PPT syndrome

sensorineural hearing loss


Hereditary motor and sensory

Femur fibula ulna syndrome Macrophagic myofasciitis Pfeiffer Palm Teller syndrome Uveal diseases


Charcot Marie Tooth disease

FFU syndrome Macrophagic myofasciitis childhood Prader-Willi syndrome Uveal melanoma

deafness recessive type Femur-fibula-ulna syndrome MMF Willi-Prader syndrome Melanoma of the Uvea

Proximal Focal Femoral

uveitis and mental retardation


Deficiency childhood Macrophagic myofasciitis Prader Labhart Willi syndrome Familial arthropathy with rash

Charcot-Marie-Tooth disease

Macrosomia developmental delay

autosomal recessive type 4g Femur-fibula-ulna complex dysmorphism Prata Liberal Goncalves syndrome Ansell Bywaters Elderking syndrome

Fenton Wilkinson Toselano

Familial arthropathy with rash uveitis

type 4g Charcot-Marie-Tooth disease syndrome Quattrin mcpherson syndrome Prata LibTral Gontalves syndrome and mental retardation

Ataxia photosensitivity short Macrosomia microphthalmia cleft



palate preauricular tag VACTERL hydrocephaly

Russe type Hereditary motor and Ferlini Ragno Calzolari

VACTERL association with

sensory neuropathy

syndrome Teebi Al-Saleh Hassoon syndrome hypoplastic corpus callosum hydrocephaly

hereditary motor and sensory Russe Fernhoff Blackston Oakley Macrosomia with lethal

type Neuropathy


microphthalmia preauricular tags Vacuolar myopathy

Hereditary motor and sensory

Macrothrombocytopathy nephritis

neuropathy Russe type Ferrochelatase deficiency and deafness external ophthalmoplegia Autophagic vacuolar myopathy

Vacuolating megalencephalic

autosomal recessive type 4g

nephritis and deafness

Preaxial deficiency postaxial leukoencephalopathy with

Charcot-Marie-Tooth disease erythropoietic Protoporphyria Macrothrombocytopathy

polydactyly hypospadias

subcortical cysts


Alport syndrome with

leukoencephalopathy with

Charcot-Marie-Tooth disease type 4g Protoporphyria erythropoietic macrothrombocytopenia preaxial polydactyly

subcortical cysts

Charcot-Marie-Tooth disease axonal

Leukoencephalopathy with swelling

Type 2B Heme synthetase deficiency Epstein syndrome Acro-pectoral syndrome

and cysts

autosomal dominant (PSN)

Macrothrombocytopenia progressive

Peripheral sensory neuropathy Fertile eunuch syndrome

Eunuchoidism with

spermatogenesis normal FSH

and low or normal interstitial

deafness sternal deformity MLC

Charcot-Marie-Tooth disease cell-stimulating hormone

Preaxial polydactyly colobomata Megalencephaly-cystic

neuronal Type 2B


normal FSH and low or normal

interstitial cell-stimulating

Brodie Chole Griffin syndrome mental retardation


neuronal Type 2B Charcot-Marie- hormone (ICSH) Eunuchoidism

Precocious epileptic

Tooth disease

with spermatogenesis Macular coloboma

encephalopathy LVM

Type 2B Charcot-Marie-Tooth

Precocious myoclonic

disease FET1 Agenesis of macula

encephalopathy Vaginal atresia

Peripheral sensory neuropathy

Hereditary macular coloboma precocious of Danks Mayne and

autosomal dominant (PSN) 1 Tremor hereditary essential (subtype)

Kozlowski Osteodysplasty Vaginal cancer

Hereditary motor and sensory

Danks Mayne Kozlowski

neuropathy 2 B (HMSN 2 B)

axonal Type 2B Charcot-Marie-Tooth

ETM1 Coloboma of macula

precocious osteodysplasty Vagneur Triolle Ripert syndrome


Charcot-Marie-Tooth disease axonal

1 Tremor familial essential Macular degeneration Precocious puberty Valvular dysplasia

Type 2E

Type 2E Charcot-Marie-Tooth

Tremor familial essential 1 Macular edema Idiopathic sexual precocity Tricuspid dysplasia

disease Fetal acitretin syndrome Cystoid macular dystrophy Familial precocious puberty

Precocious puberty with spastic

Mitral valve dysplasia

CMT 2E Fetal alcohol syndrome Cystoid macular edema

paraplegia Van Allen Myhre syndrome

axonal Type 2E Charcot-Marie-Tooth

Familial spastic paraplegia mental Van Benthem-Driessen-Hanveld

disease FAE (Fetal Alcohol Effects) Maculopathy bull's eye

retardation and precocious puberty syndrome

Charcot-Marie-Tooth disease axonal

mental retardation and precocious

Type 2F Alcohol fetopathy

facial abnormalities and central


puberty Familial spastic paraplegia Cryptorchidism

neuronal Type 2F Charcot-Marie- nervous system dysfunction concentric annular Macular Spastic paraplegia with precocious Craniofacial dysostosis

Tooth disease

Growth retardation



arthrogryposis progeroid appearance

Charcot-Marie-Tooth disease Alcohol related

neuronal Type 2F

neurodevelopmental disorder

Growth retardation facial

bull's eye Maculopathy Preeclampsia Van den Bosch syndrome

axonal Type 2F Charcot-Marie-Tooth abnormalities and central


nervous system dysfunction Madelung deformity Preeclamptic toxemia Van den ende brunner syndrome

Fetal and neonatal alloimmune Majewski type Short rib-polydactyly



syndrome Pregnancy induced hypertension Van den Ende Gupta syndrome

Type 2F Charcot-Marie-Tooth

Blepharophimosis arachnodactyly

disease Fetal anticonvulsant syndrome type 2 SRPS preeclampsia group

and congenital contractures

Charcot-Marie-Tooth disease axonal Fetal antihypertensive drugs type 2 Polydactyly with neonatal

Marden Walker like syndrome

Type 2I


chondrodystrophy PIH

without psychomotor retardation

Fetal brain disruption

arachnodactyly and congenital

Type 2I Charcot-Marie-Tooth disease sequence Majewski syndrome

Polydactyly with neonatal

Preexcitation syndrome

contractures Blepharophimosis


axonal Type 2I Charcot-Marie-Tooth

Fetal cocaine syndrome chondrodystrophy type 2 wpw syndrome VDEGS

disease Cocaine antenatal infection SRPS type 2 Wolff-Parkinson-White syndrome Van der Knapp syndrome

Charcot-Marie-Tooth disease Fetal cytomegalovirus

Auriculoventricular accessory

demyelinating autosomal recessive syndrome Majewxki ozturk syndrome

pathway syndrome Megalencephalic leukodystrophy

Type 4A Charcot-Marie-Tooth Fetal diethylstilbestrol

Anomalous ventricular excitation


demyelinating autosomal recessive

syndrome Major airway collapse

syndrome Van der Woude syndrome 2

Charcot-Marie-Tooth disease Fetal dihydantoin syndrome Tracheomalacia WPWS VWS2

Charcot-Marie-Tooth disease

False bundle-branch block

neuronal Type 2B2 Phenytoin embryofetopathy Major Canker Sore

syndrome Van Goethem syndrome

axonal Type 2B2 Charcot-Marie-

Preeyasombat Varavithya

Tooth disease Fetal edema Recurrent Aphthous Stomatitis syndrome Van Maldergem syndrome

Charcot-Marie-Tooth disease axonal Fetal enterovirus syndrome Major Aphthous Ulcer Fanconi syndrome caused by Cerebro-facio-articular syndrome

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