Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
historical
Synonyms: FACES syndrome · Friedman-Goodman syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- No data available
- Status
- historical
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome | FACES syndrome · Friedman-Goodman syndrome |
| fr | Syndrome de dysmorphie faciale-anorexie-cachexie-anomalies oculaires et cutanées | Syndrome de FACES · Syndrome de Friedman-Goodman |
| de | Gesichtsdysmorphie-Anorexie-Kachexie-Augen- und Hautanomalien-Syndrom | FACES-Syndrom · Friedman-Goodman-Syndrom |
| es | Síndrome de dismorfia facial-anorexia-caquexia-anomalías oculares y cutáneas | Síndrome FACES · Síndrome de Frieman-Goodman |
| it | Sindrome da dismorfismi facciali, anoressia, cachessia, anomalie oculari e cutanee | Sindrome di Friedman-Goodman |
| nl | Faciale dysmorfie - anorexie - cachexie - oog- en huidanomalieën-syndroom | FACES-syndroom · Syndroom van Friedman-Goodman |
| pt | Síndrome de dismorfia facial-anorexia-caquexia-anomalias oculares e cutâneas | Síndrome FACES · Síndrome Friedman-Goodman |
| pl | Zespół dysmorfii twarzy, anoreksji, kacheksji, wad oczu i skóry | Zespół Friedmana i Goodmana |
| cs | Syndrom zahrnující faciální dysmorfismus, anorexii, kachexii a anomálie oka a kůže | FACES syndrom · Friedmanův-Goodmanův syndrom · Friedman-Goodmanův syndrom |
| uk | Синдром дисморфізму обличчя-анорексії-кахексії-аномалій очей та шкіри | Синдром FACES · Синдром Фрідмана-Гудмана |
| zh | 面部畸形-厌食-恶病质-眼和皮肤异常综合征 | Friedman-Goodman综合征 |
| tr | Yüz dismorfizmi-anoreksi-kaşeksi-göz ve cilt anomalileri sendromu | FACES sendromu · Friedman-Goodman sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0016031 | E | validated | |
| MeSH | C536384 | E | validated | |
| UMLS | C2931183 | E | validated | |
| GARD | 2221 | 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 (2):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
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 | 3 cases | Worldwide | Case(s) | Validated | 6438152[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6438152[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002039 | Anorexia | |
| HP:0000463 | Anteverted nares | |
| HP:0004326 | Cachexia | |
| HP:0006101 | Finger syndactyly | |
| HP:0002970 | Genu varum | |
| HP:0004122 | Midline defect of the nose | |
| HP:0000508 | Ptosis | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0001608 | Abnormality of the voice | |
| HP:0001555 | Asymmetry of the thorax | |
| HP:0002808 | Kyphosis | |
| HP:0000995 | Melanocytic nevus | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| HP:0010290 | Short hard palate | |
| HP:0003202 | Skeletal muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0007513 | Generalized hypopigmentation | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1969
- This record as JSON: /data/d/1969.json