Dysmorphism-short stature-deafness-difference of sex development syndrome
historical
Synonyms: Dysmorphism-short stature-deafness-disorder of sex development syndrome · Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Ieshima-Koeda-Inagaki syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies syndrome characterized by craniofacial dysmorphism (including microcephaly, facial asymmetry, arched eyebrows, hypertelorism, ptosis, broad and flat nasal bridge, small nose, inverted nostrils, cleft palate, microtia, micrognathia, and short neck), deafness, male pseudohermaphroditism and severe intellectual disability. Additional clinical features include intrauterine growth restriction, feeding difficulty, growth failure, pulmonary hypertension, patent ductus arteriosus, hypotonia, brisk tendon reflexes, repeated respiratory infections and persistent hypoxemia. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysmorphism-short stature-deafness-difference of sex development syndrome | Dysmorphism-short stature-deafness-disorder of sex development syndrome · Dysmorphism-short stature-hearing loss-disorder of sex development syndrome · Ieshima-Koeda-Inagaki syndrome |
| fr | Syndrome de dysmorphie-petite taille-surdité-différence du développement sexuel | Syndrome de Ieshima-Koeda-Inagaki · Syndrome de dysmorphie-petite taille-surdité-anomalie du développement sexuel |
| de | Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom | Leshima-Koeda-Inagaki-Syndrom |
| es | Síndrome de dismorfia-talla baja-sordera-desarrollo sexual diferente | Síndrome de Ieshima-Koeda-Inagaki · Síndrome de dismorfia-talla baja-hipoacusia-trastorno del desarrollo sexual · Síndrome de dismorfia-talla baja-sordera-trastorno del desarrollo sexual |
| it | Dismorfismi - bassa statura - sordità - pseudoermafroditismo | Ritardo mentale - nanismo - sordità - anomalie genitali · Sindrome di Leshima-Koeda-Inagaki |
| nl | Dysmorfie - kleine gestalte - doofheid - geslachtsontwikkelingsstoornis-syndroom | Dysmorfie - kleine gestalte - gehoorverlies - geslachtsontwikkelingsstoornis-syndroom · Syndroom van Ieshima-Koeda-Inagaki |
| pt | Síndrome de dismorfia-baixa estatura-surdez-doença do desenvolvimento sexual | Síndrome Ieshima-Koeda-Inagaki |
| pl | Dysmorfia - niski wzrost - głuchota - zaburzenia różnicowania płci | Dysmorfia - niski wzrost - głuchota - pseudohermafrodytyzm |
| cs | Syndrom zahrnující dysmorfismus, malý vzrůst, hluchotu a poruchu vývoje pohlaví | Syndrom zahrnující dysmorfismus, malý vzrůst, hluchotu a pseudohermafroditismus |
| uk | Синдром дисморфізму - низького зросту - глухоти - порушення статевої диференціації | Синдром дизморфізму - низькорослості - глухоти - порушення статевого розвитку · Синдром дизморфізму - низькорослості - втрати слуху - порушення статевого розвитку · Синдром Ієшима-Коеда-Інагакі |
| zh | 先天性畸形-身材矮小-耳聋-性发育障碍综合征 | Ieshima-Koeda-Inagaki综合征 |
| tr | Dismorfizm-boy kısalığı-sağırlık-cinsiyet gelişim sendromu bozukluğu | Dismorfizm-kısa boy-işitme kaybı-cinsiyet gelişim bozukluğu sendromu · Ieshima-Koeda-Inagaki sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0016433 | E | validated | |
| UMLS | C4518561 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 3757305[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3757305[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
30 annotations · validated 2019-03-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000324 | Facial asymmetry | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0006801 | Hyperactive deep tendon reflexes | |
| HP:0000316 | Hypertelorism | |
| HP:0012418 | Hypoxemia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000185 | Cleft soft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0000047 | Hypospadias | |
| HP:0000037 | Male pseudohermaphroditism | |
| HP:0000054 | Micropenis | |
| HP:0000508 | Ptosis | |
| HP:0000049 | Shawl scrotum | |
| HP:0000470 | Short neck | |
| HP:0011819 | Submucous cleft soft palate | |
Annotation source: 3757305[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2282
- This record as JSON: /data/d/2282.json