Rare Genetic Syndromes

Understand more about the most diagnosed syndromes, their causes, genetic features, and symptoms.

What is a Rare Genetic Syndrome?

Caused by a genetic mutation, that may be inherited or de novo and the first in the family, there are currently over 7,000 rare genetic syndromes identified globally.
A rare syndrome is one defined as having less than 200,000 individuals diagnosed with the condition. Our understanding of these syndromes is developing all the time as more research reveals greater insight into what causes them, and how their unique features and symptoms identify them.
Understanding the causes and features of rare genetic syndromes helps provide a better diagnosis for the individuals and families affected by a broad spectrum of rare genetic syndromes and features.

More than 250,000 patients successfully analyzed

Explore the most analyzed syndromes in our system (numbers are global and based on the data from 120 countries):

Syndrome Name Total Analyzed**
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES) 5,760
Schinzel-Giedion Midface Retraction syndrome 5,940
Mucolipidosis II Alpha/beta 6,120
Ohdo syndrome, SBBYS Variant (SBBYSS) 6,300
Shprintzen-Goldberg Craniosynostosis syndrome (SGS) 6,840
DYRK1A Mutation (Mental Retardation, Autosomal Dominant 7; MRD7) 6,840
Branchiooculofacial syndrome (BOFS) 7,020
Apert syndrome 7,020
Nicolaides-Baraitser syndrome (NCBRS) 7,200
Acrocallosal syndrome (ACLS) 7,200
3MC syndrome 7,200
Treacher Collins syndrome 7,740
Seckel syndrome 7,740
Chromosome 9p Deletion syndrome 8,280
Myhre syndrome (MYHRS) 8,820
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED) 10,080
Weaver syndrome (WVS) 10,440
Cleidocranial Dysplasia (CCD) 10,620
Trichorhinophalangeal syndrome 11,160
Crouzon syndrome 11,520
Dubowitz syndrome 12,780
Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX) 13,860
Floating-Harbor syndrome (FLHS) 14,040
Cohen syndrome (COH1) 14,040
49,XXxxy syndrome 14,040
Fabry Disease 14,760
Bloom syndrome (BLM) 15,480
Cockayne syndrome 15,840
Pallister-Killian syndrome (PKS) 16,920
Bohring-Opitz syndrome (BOPS) 17,280
Achondroplasia (ACH) 17,280
Adams-Oliver syndrome 17,460
Moebius syndrome (MBS) 17,820
Robinow syndrome 18,000
Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH) 18,000
Stickler syndrome 20,700
Mowat-Wilson syndrome (MOWS) 20,700
Basal Cell Nevus syndrome (BCNS) 21,420
Witteveen-Kolk syndrome (WITKOS) 21,600
Schuurs-Hoeijmakers syndrome (SHMS) 21,780
Baraitser-Winter syndrome 21,960
Costello syndrome (CSTLO) 22,140
Saethre-Chotzen syndrome (SCS) 23,760
Kleefstra syndrome 26,280
Wiedemann-Steiner syndrome (WDSTS) 26,640
Chromosome 1p36 Deletion syndrome 26,820
Alagille syndrome 26,820
Waardenburg syndrome 28,620
Mucolipidosis Type IV 33,480
Koolen-de Vries syndrome (KDVS) 33,660
Potocki-Lupski syndrome (PTLS) 33,840
Wolf-Hirschhorn syndrome (WHS) 35,640
Smith-Magenis syndrome (SMS) 36,360
Bardet-Biedl syndrome 37,800
PMM2-Related Disorder 39,060
Cri-Du-Chat syndrome 39,420
Loeys-Dietz syndrome 39,600
Pitt-Hopkins syndrome (PTHS) 40,860
Beckwith-Wiedemann syndrome (BWS) 41,580
Fetal Valproate syndrome 45,000
Hyperphosphatasia with Mental Retardation syndrome 46,440
CHARGE syndrome 48,060
Cardiofaciocutaneous syndrome 49,500
Glass syndrome 56,520
Marfan syndrome (MFS) 59,040
Fetal Alcohol syndrome (FAS) 59,580
Phelan-Mcdermid syndrome (PHMDS) 65,160
Silver-Russell syndrome (SRS) 70,920
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) 71,100
Rett syndrome (RTT) 73,440
Turner syndrome 78,300
Menkes Disease 5,040
Mucopolysaccharidosis Type IIID (MPS3D) 900
Mucopolysaccharidosis Type IVA (MPS4A) 15,480
Mucopolysaccharidosis Type IIIA (MPS3A) 6,300
Mucopolysaccharidosis Type VI (MPS6) 11,340
Mucopolysaccharidosis Type 2 (MPS2) 104,760
Smith-Lemli-Opitz syndrome (SLOS) 39,780
Prader-Willi syndrome (PWS) 71,280
Sotos syndrome 42,480
KBG syndrome (KBGS) 34,380
Cornelia De Lange syndrome 50,400
Townes-Brocks syndrome (TBS)
Anosmia, Isolated Congenital (ANIC)
Mucopolysaccharidoses 75,960
Fragile X syndrome 77,400
Rubinstein-Taybi syndrome 73,440
Coffin-Siris syndrome 92,700
Angelman syndrome 99,720
Kabuki syndrome 86,400
Down syndrome 44,280
Noonan syndrome 110,520
Williams-Beuren syndrome (WBS) 49,320
22q11.2 Deletion syndrome 79,380
* The birth prevalence is based on data from Orpha.net
** Total Analyzed is based on data from FDNA.com. The numbers represent a showing of a syndrome as a suggested syndrome in our AI tool.

Over 400 million people are living with a rare disease globally, but most of them are misdiagnosed or paused within their diagnostic odyssey. Get a faster and more accurate analysis with FDNA Telehealth.