Acrofacial dysostosis 1, nager type - CISMeF

" /> Acrofacial dysostosis 1, nager type - CISMeF

CISMeF

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Acrofacial dysostosis 1, nager typeOMIM Phenotype

Preferred Label : Acrofacial dysostosis 1, nager type;

Symbol : AFD1;

CISMeF acronym : AFD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Afd, nager type; Nager acrofacial dysostosis; Nager syndrome; Mandibulofacial dysostosis, treacher collins type, with limb anomalies;

Description : Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distingushing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the splicing factor 3B, subunit 4 gene (SF3B4, 605593.0001);

Prefixed ID : #154400;

Details

Origin ID

154400;

UMLS CUI

C0265245;

Currated CISMeF NLP mapping
- Acrofacial dysostosis, Nager type [ICD-11 More detail]
- Acrofacial dysostosis, Nager type [MeSH concept]
- Nager acrofacial dysostosis [DO Concept]
- Nager syndrome [MedDRA Preferred Term]
- Nager syndrome [ORDO Disease]
- Nager syndrome (disorder) [SNOMED CT concept]
- acrofacial dysostosis, nager type [MeSH Supplementary Concept]
- nager syndrome [SNOMED Notion]
DO Cross reference
- Nager acrofacial dysostosis [DO Concept]
Genes related to phenotype
- Splicing factor 3b, subunit 4 [OMIM gene]
HPO term(s)
- Abnormality of the cervical spine [HPO term]
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Aganglionic megacolon [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Aqueductal stenosis [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Broad hallux [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Foot oligodactyly [HPO term]
- Gastroschisis [HPO term]
- Hallux valgus [HPO term]
- High nasal bridge [HPO term]
- Hip dislocation [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of first ribs [HPO term]
- Hypoplasia of the epiglottis [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the toes [HPO term]
- Laryngeal hypoplasia [HPO term]
- Limited elbow extension [HPO term]
- Low-set ears [HPO term]
- Lower eyelid coloboma [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Overlapping toe [HPO term]
- Partial-total absence of lower eyelashes [HPO term]
- Patent ductus arteriosus [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Preauricular skin tag [HPO term]
- Premature birth [HPO term]
- Prominent nasal bridge [HPO term]
- Radial deviation of finger [HPO term]
- Radioulnar synostosis [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Sparse lower eyelashes [HPO term]
- Speech delay [HPO term]
- Talipes equinovarus [HPO term]
- Tetralogy of Fallot [HPO term]
- Toe syndactyly [HPO term]
- Triphalangeal thumb [HPO term]
- Trismus [HPO term]
- Unilateral renal agenesis [HPO term]
- Urticaria [HPO term]
- Variable expressivity [HPO term]
- Velopharyngeal insufficiency [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Nager syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofacial dysostosis, Nager type [MeSH concept]
- Nager syndrome [ORDO Disease]
- Nager syndrome [MedDRA Preferred Term]
- Nager syndrome (disorder) [SNOMED CT concept]
- acrofacial dysostosis, nager type [MeSH Supplementary Concept]
- nager syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

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Nous contacter.
25/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.

" /> Acrofacial dysostosis 1, nager type - CISMeF

CISMeF

chu

Acrofacial dysostosis 1, nager typeOMIM Phenotype

Preferred Label : Acrofacial dysostosis 1, nager type;

Symbol : AFD1;

CISMeF acronym : AFD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Afd, nager type; Nager acrofacial dysostosis; Nager syndrome; Mandibulofacial dysostosis, treacher collins type, with limb anomalies;

Description : Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distingushing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the splicing factor 3B, subunit 4 gene (SF3B4, 605593.0001);

Prefixed ID : #154400;

Details

Origin ID

154400;

UMLS CUI

C0265245;

Currated CISMeF NLP mapping
- Acrofacial dysostosis, Nager type [ICD-11 More detail]
- Acrofacial dysostosis, Nager type [MeSH concept]
- Nager acrofacial dysostosis [DO Concept]
- Nager syndrome [MedDRA Preferred Term]
- Nager syndrome [ORDO Disease]
- Nager syndrome (disorder) [SNOMED CT concept]
- acrofacial dysostosis, nager type [MeSH Supplementary Concept]
- nager syndrome [SNOMED Notion]
DO Cross reference
- Nager acrofacial dysostosis [DO Concept]
Genes related to phenotype
- Splicing factor 3b, subunit 4 [OMIM gene]
HPO term(s)
- Abnormality of the cervical spine [HPO term]
- Absent radius [HPO term]
- Absent thumb [HPO term]
- Aganglionic megacolon [HPO term]
- Aplasia/Hypoplasia of the thumb [HPO term]
- Aqueductal stenosis [HPO term]
- Atresia of the external auditory canal [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Broad hallux [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly [HPO term]
- Conductive deafness [HPO term]
- Conductive hearing impairment [HPO term]
- Delayed speech and language development [HPO term]
- Downslanted palpebral fissures [HPO term]
- Foot oligodactyly [HPO term]
- Gastroschisis [HPO term]
- Hallux valgus [HPO term]
- High nasal bridge [HPO term]
- Hip dislocation [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of first ribs [HPO term]
- Hypoplasia of the epiglottis [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the toes [HPO term]
- Laryngeal hypoplasia [HPO term]
- Limited elbow extension [HPO term]
- Low-set ears [HPO term]
- Lower eyelid coloboma [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Overlapping toe [HPO term]
- Partial-total absence of lower eyelashes [HPO term]
- Patent ductus arteriosus [HPO term]
- Polymicrogyria [HPO term]
- Posteriorly rotated ears [HPO term]
- Preauricular skin tag [HPO term]
- Premature birth [HPO term]
- Prominent nasal bridge [HPO term]
- Radial deviation of finger [HPO term]
- Radioulnar synostosis [HPO term]
- Retrognathia [HPO term]
- Scoliosis [HPO term]
- Short stature [HPO term]
- Short toe [HPO term]
- Sparse lower eyelashes [HPO term]
- Speech delay [HPO term]
- Talipes equinovarus [HPO term]
- Tetralogy of Fallot [HPO term]
- Toe syndactyly [HPO term]
- Triphalangeal thumb [HPO term]
- Trismus [HPO term]
- Unilateral renal agenesis [HPO term]
- Urticaria [HPO term]
- Variable expressivity [HPO term]
- Velopharyngeal insufficiency [HPO term]
- Ventricular septal defect [HPO term]
- Wide mouth [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Nager syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrofacial dysostosis, Nager type [MeSH concept]
- Nager syndrome [ORDO Disease]
- Nager syndrome [MedDRA Preferred Term]
- Nager syndrome (disorder) [SNOMED CT concept]
- acrofacial dysostosis, nager type [MeSH Supplementary Concept]
- nager syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients

Nous contacter.
25/05/2025

© Rouen University Hospital. Any partial or total use of this material must mention the source.