raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:99228

Mosaic monosomy X syndrome

Type
Etiological subtype
Group
Subtype of disorder
Inheritance
Not applicable
Age of onset
Antenatal, Childhood, Infancy, Neonatal
Status
active

This disease is described under Turner syndrome

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enMosaic monosomy X syndrome
frSyndrome de monosomie x en mosaïque
deMonosomie X-Mosaik
esSíndrome de monosomía X en mosaico
itSindrome monosomia X in mosaico
nlMozaïekmonosomie X-syndroom
ptMonossomia X em mosaicismo
plZespół mozaikowej monosomii chromosomu X
csMozaiková forma monozomie X
ukМозаїчна моносомія X
zh镶嵌型X单体
trMozaik monozomi X
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q96.3BTNTspecificvalidated
ICD-10Q96.4BTNTspecificvalidated
ICD-11LD50.03BTNTspecificvalidated
ICD-11LD50.04BTNTspecificvalidated
MONDO0020467Evalidated
UMLSC5681628Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

  • ORPHA:881Turner syndrome
    rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare urogenital diseases; rare skin diseases; rare renal diseases; rare ophthalmic disorders; rare endocrine diseases; rare circulatory system diseases; rare infertility disorders; rare gynecological and obstetric diseases; rare transplant-related disorders

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

113 annotations · validated 2017-08-30
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0040072Abnormal forearm bone morphology
HP:0000137Abnormality of the ovary
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0002967Cubitus valgus
HP:0000823Delayed puberty
HP:0002750Delayed skeletal maturation
HP:0100625Enlarged thorax
HP:0008222Female infertility
HP:0001510Growth delay
HP:0003492High urinary gonadotropins (primary hypogonadism)
HP:0000837Increased circulating gonadotropin level
HP:0012774Increased upper to lower segment ratio
HP:0001511Intrauterine growth retardation
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0008897Postnatal growth retardation
HP:0008209Premature ovarian insufficiency
HP:0000470Short neck
HP:0004322Short stature
HP:0000879Short sternum
HP:0006610Wide intermamillary distance
Frequent (79-30%)
HP:0007477Abnormal dermatoglyphics
HP:0000739Anxiety
HP:0000708Atypical behavior
HP:0000475Broad neck
HP:0005689Dermatoglyphic ridges abnormal
HP:0005113Dilatation of the aortic arch
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0006438Enlargement of the distal femoral epiphysis
HP:0001531Failure to thrive in infancy
HP:0002857Genu valgum
HP:0001952Glucose intolerance
HP:0000872Hashimoto thyroiditis
HP:0000365Hearing impairment
HP:0001397Hepatic steatosis
HP:0000218High palate
HP:0002705High, narrow palate
HP:0010510Hypermobility of toe joints
HP:0000822Hypertension
HP:0001800Hypoplastic toenails
HP:0000758Impaired use of nonverbal behaviors
HP:0006456Irregular proximal tibial epiphyses
HP:0002808Kyphosis
HP:0002162Low posterior hairline
HP:0000369Low-set ears
HP:0000347Micrognathia
HP:0009759Neck pterygia
HP:0001513Obesity
HP:0000786Primary amenorrhea
HP:0000403Recurrent otitis media
HP:0000278Retrognathia
HP:0000869Secondary amenorrhea
HP:0000914Shield chest
HP:0010044Short 4th metacarpal
HP:0010047Short 5th metacarpal
HP:0001328Specific learning disability
HP:0000474Thickened nuchal skin fold
HP:0000465Webbed neck
Occasional (29-5%)
HP:0001231Abnormal fingernail morphology
HP:0000377Abnormal pinna morphology
HP:0000164Abnormality of the dentition
HP:0001596Alopecia
HP:0009118Aplasia/Hypoplasia of the mandible
HP:0001631Atrial septal defect
HP:0007018Attention deficit hyperactivity disorder
HP:0000987Atypical scarring of skin
HP:0002960Autoimmunity
HP:0001647Bicuspid aortic valve
HP:0002608Celiac disease
HP:0002611Cholestatic liver disease
HP:0001680Coarctation of aorta
HP:0000476Cystic hygroma
HP:0012434Delayed social development
HP:0000716Depression
HP:0000086Ectopic kidney
HP:0000286Epicanthus
HP:0001395Hepatic fibrosis
HP:0001385Hip dysplasia
HP:0000085Horseshoe kidney
HP:0001812Hyperconvex fingernails
HP:0000842Hyperinsulinemia
HP:0003186Inverted nipples
HP:0001004Lymphedema
HP:0003067Madelung deformity
HP:0000995Melanocytic nevus
HP:0001658Myocardial infarction
HP:0000545Myopia
HP:0003764Nevus
HP:0005603Numerous congenital melanocytic nevi
HP:0000767Pectus excavatum
HP:0001763Pes planus
HP:0001657Prolonged QT interval
HP:0000508Ptosis
HP:0004349Reduced bone mineral density
HP:0002650Scoliosis
HP:0001831Short toe
HP:0011307Splayed toes
HP:0000486Strabismus
HP:0100646Thyroiditis
HP:0005978Type II diabetes mellitus
HP:0001045Vitiligo
Very rare (<4-1%)
HP:0002647Aortic dissection
HP:0005294Arterial dissection
HP:0002613Biliary cirrhosis
HP:0001394Cirrhosis
HP:0000471Gastrointestinal angiodysplasia
HP:0004386Gastrointestinal inflammation
HP:0000150Gonadoblastoma
HP:0004383Hypoplastic left heart
HP:0002037Inflammation of the large intestine
HP:0002861Melanoma
HP:0012758Neurodevelopmental delay
HP:0008678Renal hypoplasia/aplasia

Run the differential on the 12 obligate / very frequent terms

Annotation source: 28705803[PMID]_17047017[PMID]_22707402[PMID]_25517026[PMID]_25438673[PMID]_27008889[PMID]_25573747[PMID]_26039527[PMID]_26874361[PMID]_26744895[PMID]_20594638[PMID]_22802424[PMID]_23603786[PMID]_24731013[PMID]_14752843[PMID]_23173989[PMID]_18839441[PMID]_17873120[PMID]

7

Sources for this card