Illness list

RARE DISEASES OF KMSK CHILDREN

Rare diseases are not as rare as the name would suggest. According to the Federal Office of Public Health, around 350,000 children and young people in Switzerland alone suffer from a rare disease. A rare disease is defined as one that affects no more than one in 2000 people. There are currently around 8000 different rare diseases worldwide. Unfortunately, many of these genetic defects and metabolic diseases can only be diagnosed after complex and cost-intensive genetic analyses.

If you are affected by one of these diseases and would like to exchange information, please contact Manuela Stier, founder and managing director of the association.

Note: The list includes those diseases that are present in the members of the KMSK Family Network. It does not claim to be complete and is updated on an ongoing basis. Orphanet, the portal for rare diseases, provides a list of rare diseases in alphabetical order.

Rare disease

contact points

alfi syndrome (9 p minus)

Esophageal atresia

IQSEC2 mutation

Lissencephaly

17q12 Microduplication syndrome

1p36 Microdelition

4p syndrome

4q21 microdeletion syndrome

8p23delicion syndrome

9p Deletion

Acute necrotizing encephalopathy

Aicardi syndrome

ALERD syndrome Epilepsy

ALG 13 mutation

ALL

Alpers syndrome

Alpha-1 Antitrypsin PIZZ

Ambras syndrome

Amniotic band syndrome

Anal atresia

Anetoderma

Angelman syndrome

Patient organization Switzerland

Aniridia

AP-4 deficiency syndrome in the AP4S1 gene

Aphakia

Aplasia of the lacrimal glands

Aplasia of the submandibular glandulae

Apraxia of speech

ARPKD

Arthrogryposis

Arthrogryposis multiplex congenita

Arts syndrome (PRPS-1 gene mutation)

Asperger syndrome

Asymmetrical soft palate elevation

Ataxia teleangiestasia

Autosomal dominant myopathy with central movement disorder

AUTS2 syndrome

Bainbridge-Ropers syndrome

Bainbridge-Ropers syndrome

Band heterotopy

Bardet Biedl syndrome

Bartter syndrome type I

Basal cell nevus syndrome

Beals-Hecht syndrome

Beckwith-Wiedemann syndrome

Bicuspid aortic valve with aortic dilation

Biliary atresia

Biotinidase deficiency

Bloom syndrome

BNS seizures

Bosma arhinia microphthalmia syndrome (BAM syndrome)

BPAN - WDR45 syndrome

Brain anomalies (especially CC agenesis)

Brain change

Brain malformation

Brain stem hemorrhage during pregnancy

Brain tumor

Brain tumor: Ganglioglioma

Brooke-Spiegler syndrome

Brunner syndrome

Brunner syndrome - Rare disease

Butterfly disease

Butterfly vortex

Cabezas syndrome

CACNA1 mutation

Canavan's disease (leukodystrophy)

Cancer

Cardio-facio-cutaneous (CFC) syndrome

Cartilage Hair Displasia

Cat-eye syndrome

Cataract

CDG type 1

Celebral ataxia / Celebral movement disorder

CFC syndromes

CGD

Charcot-Marie-Tooth disease

CHARGE syndrome

CHILD syndrome

Chromosomal psychomotor developmental delay

Chronic neuropathic pain syndrome

Chronic non-bacterial osteomyelitis

Chronic recurrent multifocal osteomyelitis (CRMO)

CIPA syndrome (neuropathy, autonomous hereditary sensory, type V)

Circumscribed scleroderma

CIS

Cloacal malformation

Clubfoot

CMV infection

CMV INFECTION

CNOT3 mutation

CNTNAP 2

Coats-plus syndrome

Cobalamin C defect

Codas syndrome

Coffin-Lowry syndrome (CLS)

Coffin-Siris syndrome

Cohen syndrome

COL6A2 variant

Collagen VI muscular dystrophy

Complex brain malformation

Complex congenital brain malformation with subtotal beam agenesis

Congenital sodium diarrhea (random gene mutation type GUCY2C)

Congenital spondyloepiphyseal dysplasia

congenital titinopathy (TTN)

Cornelia de Lange syndrome

Costello syndromes

Cowden syndrome

CP (cerebral palsy)

CP tetraspastic

Crab

Creatine deficiency syndrome

Cri-du-chat syndrome

Crohn's disease

CRPS

Cryoporin-associated periodic syndromes (CAPS)

CTCF - associated developmental disorder

CTNNB1 syndrome

Curschmann-Steinert syndrome

CVID disease

Cystic fibrosis

Cystic Fibrosis Switzerland

Cystinosis

Cytomegaly

De Grouchy syndrome type II

Deafness

Deep Morphea

Denys crash syndrome

Desanto-Shinawi syndrome

Development backlog

Di George syndrome

Diabetes insipidus

Diamond-Blackfan anemia

Diaphragmatic hernia scoliosis Failure to thrive with only 1 2/3 lungs

Diffuse intrinsic ponsglioma (DIPG)

Doose syndrome (epilepsy)

Double cortex syndrome

Dravet syndrome

Duchenne muscular dystrophy

Duodenal atresia

Dup15q

Duplication AUTS2 gene with CP

DYRK1A syndrome

Dyslalia

Dysmelia of the left forearm

Dysmorphia syndrome deletion 8q24.13-8q28.4

Dysostosis of the cranial diaphragm (CCD)

Dystonia

Dystonic movement disorder

Early childhood autism

EBF3 HADDS

Ectodermal dysplasia

Ehlers Danlos syndrome

Enchondromatosis

Enterovirus with paralysis consequences

Eosinophilic esophagitis (EoE)

Epidermolysis Bullosa

Epilepsy

Epileptic encephalopathy

Episodic ataxia type 2

Esophageal atresia type IIIa

Fabry disease

Fallot tetralogy

Familial cylindromatosis

FARS2 genetic defect

FBXO11 genetic defect

Fires

Floating harbor syndrome

FOXG1, FOXC1 and FoxP1 syndrome

Fragile X syndrome

Friedreich's ataxia

Fructose malabsorption

GABRB2

Galactosemia

Gastroparesis

Gene defect (EEF1A2)

Gene deletion on chromosome 11

Gene mutation on the FOXP1

Gene mutation PIK3R2

Genetic defect on the 15 chromosome

Genetic defect, a deletion on chromosome 7

Genetic defect, a deletion on chromosome 9

Genetic defect: CACNA1H gene

Genetic defect: KCNQ2 gene

Genetic defect: PIK3R2

Genetic epilepsy PIK3CA

Glanzmann Thrombasthenia

Glaucoma

Glut1 deficiency syndrome

Glutaric aciduria type I

Glycogenosis type 1a

Glycogenosis type 1b

Goldenhar syndrome

Grade 3 auricular dysplasia on the left with ear canal atresia

HADD syndrome

Heart defects

Helsmoortel-Van der Aa syndrome (ADNP syndrome)

Hemiparesis due to ruptured aneurysm

Hemiplegia left

Hereditary angioedema

Hereditary neuropathy with a tendency to pressure lesions (HNPP) with deletion of the PMP22 gene

Hereditary sensorimotor neuropathy

Herpes meningitis

Heterozygous de novum mutation in the PDS5B gene with unclear significance

HHT Osler's disease

Hinman syndrome

Hirschsprung's disease

Hist1H1E syndrome

HLH

Hole in the bile duct

Holoprosencephaly

Hunter's disease

Hydrocephalus (hydrocephalus)

Hyper IGD

Hyperekplexia

Hyperlordosis

Hypertension, arterial pulmonary

Hypoglycemia

Hypophosphatasia

Hypophosphatemia (XLH)

Hypoplastic left heart syndrome

Hypospadias

Hypotension

Idic 15

Idiopathic pulmonary hypertension

Imerslund-Gräsbeck syndrome

Immunodeficiency

Interstitial lung disease (ABCA3 deficiency)

Juvenile arthritis

Juvenile dermatomyositis

Kabuki syndrome

Kartagener syndrome

KBG syndrome

KCNC 1 genetic defect

KdVS syndrome (Koolen de Vries syndrome)

KIF1a

Kleefstra syndrome

Klippel-Feil syndrome

Lack of eardrum mobility

Lama2 muscular dystrophy

Left genu valgum with extensor failure

Leigh syndrome (mitochondriopathy)

Lennox-Gastaut syndrome

Lesch-Nyhan syndrome

Leukemia

Leukemia AAL

Leukocytopenia with severe neutropenia and lymphopenia

Li Fraumeni syndrome

Linear scleroderma

Lissencephaly

Loeys-Dietz syndrome

Louis Bar syndrome

Louis Bar syndrome Ataxia

Lowe syndrome

Lyell syndrome

Lymphangioma

Lymphangiomatosis

Lymphoma

M-CM (PROS)

Macrocephaly syndrome

Malate dehydrogenase deficiency

Marfan syndrome

Marshall syndrome

Mastocytosis

MATP6 mutation

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

MCAD deficiency

Mecp2 duplication syndrome

Med13L

Megalencephaly

MEN Type2a

Metachromatic leukodystrophy MLD

Methylmalonic acidemia

Microcephaly

Microcephaly PlK4 genetic defect

Microdeletion 1p36

Microdeletion 22q11

Microdeletion syndrome 16p11.2

Microdeletion syndrome 6p22.3p23

Microtie

Missing acetabulum

Missing uvula

Mosaic PIK3R2 with MPPH syndrome

Mouth breathing with drooling

Mowat-Wilson syndrome

MPPH syndrome

MPS Tip 1 Hurler

Mucopolysaccharidosis MPS 3A Sanfilippo syndrome

Mulibrey Nanism Syndrome

Multiple cavernomas

Muscle hypotonia

Muscular dystrophy

Mutation TPM3 gene

Myopathy, centronuclear

Möbius syndrome

Narcolepsy

Nephrotic syndrome

Neuroaxonal dystrophy

Neurocutaneous melanocytosis (NCM)

Neurodermatitis

Neurofibromatosis type 1

Neuronal ceroid lipofuscinosis

Neutropenia

Niemann Pick C

Non-ketotic hyperglycinemia (NKH)

Noonan syndrome m-RAS mutation

Noonan syndrome or Noonan syndrome Ptpn11

NSD2

NUTM1-BRD4- Fusion

Oedeme

Omphalocele

OMS with neuroblastoma

Opsoclonus myoclonus syndrome

Orofacio-digital syndrome

Osteogenesis imperfecta

Osteoglyphic dystrophy

Pachygyria & Polymicrogyria

Pachygyrie frontal right

Paint rotation

Pallister Hall syndrome

Pallister-Killian syndrome

Parkes-Weber syndrome

Partial monosomy 21

Partial trisomy 13

Partial trisomy 18

Partial trisomy 1p

Partial trisomy 2p (exactly: dup 2p25.1-p22.3)

Partial trisomy 7

pathogenic sequence deviation in the HRAS gene

Pelizaeus-Maerzbacher disease

Peroxisomal biogenesis deletion (cell pathway spectrum)

Perthes' disease

PFAPA syndrome

Pfeiffer syndrome

Pharmacoresistant epilepsy

Pharmacoresistant epilepsy with complex focal and secondary generalized tonic-clonic seizures

Phelan McDermid syndrome

Philadelphia syndrome

Pierre Robin sequence

Piezo 2 mutation

PIGT genetic defect

PIK3CA-associated tall stature syndrome

Pitt Hopkins syndrome

Pituitary tumor

PMM2-CDG

Polands syndrome

Polydactyly

Polymicrogyria

Popliteal pterygium syndrome

Popliteal pyterium syndrome

Post-infectious bronchiolitis obliterans

Prader-Willi syndrome

Primordial short stature (SGA) with microcephaly

Primrose syndrome

Prontocerebellar hypoplasia type 6, RARS2

Prps1 gene mutation

Pseudo-obstruction syndrome

Psoriasis

Pterygium syndrome

Pubertas Praecox

Pulmonary atresia with intact ventricular septum HRHS

Pyruvate dehydrogenase deficiency

Rare metabolic disease GM1 gangliosidosis

Rasmussen Encephalities

Rett syndrome

Rheumatism

Ring chromosome 18

Rubinstein-Taybi syndrome

Salla disease

Salt and pepper syndrome

Scheuermann's disease

Schizencephaly

Scleroderma

SCN2A genetic disease

Scoliosis

Segawa syndrome

Segawa syndrome

Semilobar holoprosencephaly

Septic granulomatosis

Septo-optic dysplasia

SETD1B mutation

severe global developmental delay after fetal alloimmune thrombocytopenia

Severe global developmental delay of unknown etiology

Severe migration disorders

SGA dwarfism

Short bowel syndrome

Short stature (SGA)

Short stature achondroplasia

Shwachman-Diamond

Silver-Russell syndrome

Singleton-Merten dysplasia

sJIA (systemic juvenile idiopathic arthritis)

SMALED2B (BICD2 gene)

SMC1A gene mutation

Smith-Kingsmore syndrome

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome (SMS)

Snyder-Robinson syndrome

Sod / septo-optic dysplasia

Sotos syndrome

Spastic paraparesis

SPATA5 genetic defect

Spina bifida

Spina bifida meningomyelocele

Spina bifida tethered cord cervical vertebrae 3 and 4

Spinal muscular atrophy type 1

Spinal muscular atrophy type 2

St. Dystrophy

STAT 3 Gain-of-function

Steve Johnson syndrome

Stroke

Stxbp1

Stxpb1 genetic defect

Submucous cleft palate

Sweet syndrome

Syndrome Schinzel Giedion

Syndromic developmental delay

Syndromic disorder with a deletion in chromosome 19

Syngap1

Terminal deletion of chromosome 10p

Tetraparesis

Thalassemia major

Therapy-refractory epilepsy

Thiamine deficiency with mutation in the Tpk1 gene

Thrombocytopenia

Thrombocytopenia type 2

Timothy syndrome

Timothy Syndrome Alliance (TSA)

TJP2 deficiency/PFIC4

TNN13K mutation

Toxic hepatitis

Toxoplasmosis

Tracheomalacia

Treacher Collin syndrome

Tricho-rhino-phalaengales syndrome type II

Tricuspid atresia fontan physiology

Tricuspid valve atresia

TRIO gene mutation

Triple-X-Symdrome

Trisomy 12 12q 13.12

Trisomy 6

Tuberous sclerosis

Type I diabetes

Ulcerative colitis

Ullrich's muscular dystrophy

Ullrich-Turner syndrome

Unilateral hemiparesis on the right

Untreated brain tumor (optic glioma)

USP9X

Uveitis

V.a. Ehlers Danlos syndrome

VACTERL association

Vacterl associatione

Van der Knaap syndrome

Visual impairment

Von Willebrand syndrome

WAGR syndrome

Wdfy3 (gene mutation)

West Syndrome

White Sutton syndrome

Whole body spasticity

Wiedemann-Steiner syndrome

Williams-Beuren syndrome

Wolf-Hirschhorn syndrome

Wolfram-like syndrome

X-ALD

X-linked ichthyosis

ZARD Wieacker-Wolff syndrome

Zuelzer Wilson syndrome