Melnick-needles syndrome

Preferred Label : Melnick-needles syndrome;

Symbol : MNS;

CISMeF acronym : MNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Melnick-needles osteodysplasty; Osteodysplasty of melnick and needles;

Description : Melnick-Needles syndrome is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. These disorders, including frontometaphyseal dysplasia (FMD; 305620), otopalatodigital syndrome-1 (OPD1; 311300), and otopalatodigital syndrome-2 (OPD2; 304120), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they called 'fronto-otopalatodigital osteodysplasia.';

Inheritance : X-linked dominant;

Molecular basis : Caused by mutation in the filamin A gene (FLNA, 300017.0012);

Prefixed ID : #309350;

Details

Origin ID

309350;

UMLS CUI

C0025237;

Automatic exact mappings (from CISMeF team)
- FLNA wt Allele [NCIt concept]
- GYPA wt Allele [NCIt concept]
- GYPB wt Allele [NCIt concept]
- Manganese [NCIt concept]
- Melnick-Needles osteodysplasty [ICD-11 More detail]
- Melnick-Needles syndrome [DO Concept]
- Minnesota [NCIt concept]
- glycophorin E (MNS blood group) [HGNC gene]
- manganese sulfide [MeSH Supplementary Concept]
- osteochondrodysplasias [MeSH Descriptor]
- symbol withdrawn MNS [HGNC gene]
Currated CISMeF NLP mapping
- Melnick Needles syndrome [Disease (Nov.)]
- Melnick-Needles syndrome [MeSH concept]
- Melnick-Needles syndrome [ORDO Disease]
- Melnick-Needles syndrome [MedDRA LLT]
- Melnick-Needles syndrome (disorder) [SNOMED CT concept]
- melnick-needles syndrome [SNOMED Notion]
DO Cross reference
- Melnick-Needles syndrome [DO Concept]
False automatic mappings
- Monaco [NCIt concept]
- Mongolia [NCIt concept]
Genes related to phenotype
- Filamin a [OMIM gene]
HPO term(s)
- Anterior concavity of thoracic vertebrae [HPO term]
- Cleft palate [HPO term]
- Coarse hair [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Coxa valga [HPO term]
- Delayed cranial suture closure [HPO term]
- Delayed eruption of teeth [HPO term]
- Failure to thrive [HPO term]
- Flared metaphysis [HPO term]
- Frontal hirsutism [HPO term]
- Gait disturbance [HPO term]
- Genu valgum [HPO term]
- Genu varus [HPO term]
- Hip dislocation [HPO term]
- Hoarse voice [HPO term]
- Hydronephrosis [HPO term]
- Hypertelorism [HPO term]
- Hypoplastic scapulae [HPO term]
- Kyphoscoliosis [HPO term]
- Limited elbow extension [HPO term]
- Long neck [HPO term]
- Macrotia [HPO term]
- Micrognathia [HPO term]
- Mitral valve prolapse [HPO term]
- Motor delay [HPO term]
- Narrow chest [HPO term]
- Obtuse angle of mandible [HPO term]
- Omphalocele [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Prominent supraorbital ridges [HPO term]
- Proptosis [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Short clavicles [HPO term]
- Short distal phalanx of finger [HPO term]
- Short humeri [HPO term]
- Short humerus [HPO term]
- Short scapulae [HPO term]
- Small face [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Tibial bowing [HPO term]
- Tooth malposition [HPO term]
- Tricuspid valve prolapse [HPO term]
- Ureteral stenosis [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- Melnick-Needles syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Melnick Needles syndrome [Disease (Nov.)]
- Melnick-Needles syndrome [MedDRA LLT]
- Melnick-Needles syndrome [MeSH concept]
- Melnick-Needles syndrome [ORDO Disease]
- Melnick-Needles syndrome [DO Concept]
- Melnick-Needles syndrome (disorder) [SNOMED CT concept]
- Osteodysplasty [MedDRA LLT]
- melnick-needles syndrome [SNOMED Notion]

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