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	Prevalence*	Total Analyzed**
Blepharophimosis, Ptosis, and Epicanthus Inversus (BPES)	Unknown	5,760
Schinzel-Giedion Midface Retraction syndrome	<1 in 1,000,000	5,940
Mucolipidosis II Alpha/beta	<1 in 1,000,000	6,120
Ohdo syndrome, SBBYS Variant (SBBYSS)	<1 in 1,000,000	6,300
Shprintzen-Goldberg Craniosynostosis syndrome (SGS)	<1 in 1,000,000	6,840
DYRK1A Mutation (Mental Retardation, Autosomal Dominant 7; MRD7)	Unknown	6,840
Branchiooculofacial syndrome (BOFS)	Unknown	7,020
Apert syndrome	60 in 80,000	7,020
Nicolaides-Baraitser syndrome (NCBRS)	<1 in 1,000,000	7,200
Acrocallosal syndrome (ACLS)	<1 in 1,000,000	7,200
3MC syndrome	<1 in 1,000,000	7,200
Treacher Collins syndrome	1-9 in 100,000	7,740
Seckel syndrome	<1 in 1,000,000	7,740
Chromosome 9p Deletion syndrome	Unknown	8,280
Myhre syndrome (MYHRS)	<1 in 1,000,000	8,820
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)	6-9 in 10,000	10,080
Weaver syndrome (WVS)	1 in 15,000	10,440
Cleidocranial Dysplasia (CCD)	1-9 in 1,000,000	10,620
Trichorhinophalangeal syndrome	Unknown	11,160
Crouzon syndrome	1 in 2,000-2,5000	11,520
Dubowitz syndrome	Unknown	12,780
Alpha-Thalassemia/mental Retardation syndrome, X-Linked (ATRX)	<1 in 1,000,000	13,860
Floating-Harbor syndrome (FLHS)	Unknown	14,040
Cohen syndrome (COH1)	Unknown	14,040
49,XXxxy syndrome	Unknown	14,040
Fabry Disease	1-5 in 10,000	14,760
Bloom syndrome (BLM)	Unknown	15,480
Cockayne syndrome	Unknown	15,840
Pallister-Killian syndrome (PKS)	Unknown	16,920
Bohring-Opitz syndrome (BOPS)	<1 in 1,000,000	17,280
Achondroplasia (ACH)	1 in 25,000	17,280
Adams-Oliver syndrome	Unknown	17,460
Moebius syndrome (MBS)	1 in 500,000	17,820
Robinow syndrome	1 in 500,000	18,000
Noonan syndrome-Like Disorder with Loose Anagen Hair (NSLH)	<1 in 1,000,000	18,000
Stickler syndrome	1-9 in 100,000	20,700
Mowat-Wilson syndrome (MOWS)		20,700
Basal Cell Nevus syndrome (BCNS)	1 in 60,000	21,420
Witteveen-Kolk syndrome (WITKOS)	<1 in 1,000,000	21,600
Schuurs-Hoeijmakers syndrome (SHMS)		21,780
Baraitser-Winter syndrome	<1 in 1,000,000	21,960
Costello syndrome (CSTLO)		22,140
Saethre-Chotzen syndrome (SCS)	1 in 50,000	23,760
Kleefstra syndrome	<1 in 1,000,000	26,280
Wiedemann-Steiner syndrome (WDSTS)	1 in 40,000	26,640
Chromosome 1p36 Deletion syndrome	1 in 10,000	26,820
Alagille syndrome	1 in 30,000	26,820
Waardenburg syndrome	1 in 40,000	28,620
Mucolipidosis Type IV	1 in 40,000	33,480
Koolen-de Vries syndrome (KDVS)		33,660
Potocki-Lupski syndrome (PTLS)	1 in 25,000	33,840
Wolf-Hirschhorn syndrome (WHS)	1 in 50,000	35,640
Smith-Magenis syndrome (SMS)	1-9 in 100,000	36,360
Bardet-Biedl syndrome	1-9 in 1,000,000	37,800
PMM2-Related Disorder	1 in 20,000	39,060
Cri-Du-Chat syndrome		39,420
Loeys-Dietz syndrome		39,600
Pitt-Hopkins syndrome (PTHS)	1-9 in 1,000,000	40,860
Beckwith-Wiedemann syndrome (BWS)	1 in 10,500	41,580
Fetal Valproate syndrome		45,000
Hyperphosphatasia with Mental Retardation syndrome	<1 in 1,000,000	46,440
CHARGE syndrome	1 in 10,000	48,060
Cardiofaciocutaneous syndrome	1 in 810,000	49,500
Glass syndrome	1 in 20,000	56,520
Marfan syndrome (MFS)	1 in 5-10,000	59,040
Fetal Alcohol syndrome (FAS)	10 in 1,000	59,580
Phelan-Mcdermid syndrome (PHMDS)		65,160
Silver-Russell syndrome (SRS)	1 in 100,000	70,920
Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP)	<1 in 1,000,000	71,100
Rett syndrome (RTT)	1 in 10,000	73,440
Turner syndrome	1 in 2,000	78,300
Menkes Disease	1 in 100,000	5,040
Mucopolysaccharidosis Type IIID (MPS3D)	1-9 in 1,000,000	900
Mucopolysaccharidosis Type IVA (MPS4A)	1-5 in 10,000	15,480
Mucopolysaccharidosis Type IIIA (MPS3A)	1-9 in 1,000,000	6,300
Mucopolysaccharidosis Type VI (MPS6)	1 in 43,261-1,505,160	11,340
Mucopolysaccharidosis Type 2 (MPS2)	1 in 166,000	104,760
Smith-Lemli-Opitz syndrome (SLOS)	1 in 20,000-40,000	39,780
Prader-Willi syndrome (PWS)	1-9 in 100,000	71,280
Sotos syndrome	1-9 in 100,000	42,480
KBG syndrome (KBGS)	<1 in 1,000,000	34,380
Cornelia De Lange syndrome	1 in 45,000-62,500	50,400
Townes-Brocks syndrome (TBS)	-
Anosmia, Isolated Congenital (ANIC)	-
Mucopolysaccharidoses	1 in 25,000	75,960
Fragile X syndrome	1 in 2,400-6,000	77,400
Rubinstein-Taybi syndrome	1 in 100,000-125,000	73,440
Coffin-Siris syndrome	<1 in 1,000,000	92,700
Angelman syndrome	1 in 12,000-20,000	99,720
Kabuki syndrome	1 in 32,000-86,000	86,400
Down syndrome	1 in 700	44,280
Noonan syndrome	1 in 1,000-2,500	110,520
Williams-Beuren syndrome (WBS)	1 in 7,500-10,000	49,320
22q11.2 Deletion syndrome	1 in 4,000-7,000	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.

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