Disease #00194 (AFD1 (dysostosis, acrofacial, type 1, (AFD-1, Nager type)), OMIM:154400)

Official abbreviation AFD1
Name dysostosis, acrofacial, type 1, (AFD-1, Nager type)
OMIM ID 154400
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 1 gene SF3B4
Associated tissues -
Disease features -
Remarks -
Date created 2013-09-09 16:24:18 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00078550 - PubMed: Bernier 2012 - F - - - >5y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; cleft soft palate; abnormal ears; hearing loss; abnormal thumbs (stiff bilateral); radioulnar synostosis (bilateral) SF3B4 SF3B4 1 1 Johan den Dunnen
00078551 - PubMed: Bernier 2012 father of F-2 M - - - >38y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia; radioulnar synostosis; valgus laxity of knees and ankles SF3B4 SF3B4 1 1 Johan den Dunnen
00078552 - PubMed: Bernier 2012 daughter of F-1 F - - - >1y - - - AFD1 Nager syndrome; Micrognathia; cleft palate; tracheotomy; hearing loss; radioulnar synostosis; subglottic stenosis SF3B4 SF3B4 1 1 Johan den Dunnen
00078553 - PubMed: Bernier 2012 - F - - - >13y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; ankylosis of temporomandibular joint; high arched, cleft soft palate; tracheotomy; abnormal ears; hearing loss; absent right thumb and small and stiff left thumb; radioulnar synostosis; delayed development; limited range of movement in elbows and shoulders, camptodactyly, left clubfoot, renal abnormalities, ventriculoseptal defect and dacryostenosis SF3B4 SF3B4 1 1 Johan den Dunnen
00078554 - PubMed: Bernier 2012 Clinical features not determined F - - - >15y - - - AFD1 Nager syndrome SF3B4 SF3B4 1 1 Johan den Dunnen
00078555 - PubMed: Bernier 2012 - F - - - >1y - - - AFD1 Nager syndrome; Absent lower eyelashes (minimal); midface retrusion; micrognathia; abnormal soft palate; abnormal ears; hearing loss; radial ray abnormality; absent thumbs (bilateral); hair extension on cheek, strabismus, mitral valve prolapse, and limited range of movement in elbows SF3B4 SF3B4 1 1 Johan den Dunnen
00078556 - PubMed: Bernier 2012 - M - - - >2y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; abnormal palate; abnormal ears; hearing loss; radial ray abnormality; abnormal thumbs; radioulnar synostosis; intellectual disability SF3B4 SF3B4 1 1 Johan den Dunnen
00078557 - PubMed: Bernier 2012 son of J-2 M - - - >17y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; tracheotomy; abnormal ears; hearing loss; abnormal thumbs SF3B4 SF3B4 1 1 Johan den Dunnen
00078558 - PubMed: Bernier 2012 mother of J-1 F - - - >56y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia SF3B4 SF3B4 1 1 Johan den Dunnen
00078559 - PubMed: Bernier 2012 - M - - - >2y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (decreased); midface retrusion; micrognathia; abnormal soft palate; abnormal ears; hearing loss; radial ray abnormality; abnormal thumbs (proximally placed and stiff); radioulnar synostosis (right) SF3B4 SF3B4 1 1 Johan den Dunnen
00078560 - PubMed: Bernier 2012 - F - - - >4y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; high arched palate; tracheotomy; abnormal ears; radial ray abnormality; abnormal thumbs; short stature and bilateral syndactyly of the 4th and 5th toes SF3B4 SF3B4 1 1 Johan den Dunnen
00078561 - PubMed: Bernier 2012 - F - - - >12y - - - AFD1 Nager syndrome; Micrognathia; ankylosis of temporomandibular joint; cleft palate; tracheotomy; hearing loss; radial ray abnormality; abnormal thumbs (absent bilateral); radioulnar synostosis SF3B4 SF3B4 1 1 Johan den Dunnen
00078562 - PubMed: Bernier 2012 - F - - - >4y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; micrognathia; hearing loss; radial ray abnormality; absent left thumb and fused right distal interphalangeal joint; radioulnar synostosis; limited range of motion in all extremities at birth, arachnodactyly, and small 5th fingers SF3B4 SF3B4 1 1 Johan den Dunnen
00078563 - PubMed: Bernier 2012 - F - - - >4y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; tracheotomy; abnormal ears; radial ray abnormality; abnormal thumbs; radioulnar synostosis; ventriculoseptal defect and diaphragmatic hernia SF3B4 SF3B4 1 1 Johan den Dunnen
00078564 - PubMed: Bernier 2012 - F - - - >24y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; tracheotomy; abnormal ears; hearing loss; small right thumb and slender left thumb; radioulnar synostosis (unilateral); abnormal teeth, partial absence of left fingers 3-5, slencer haluces, and hallux valgus SF3B4 SF3B4 1 1 Johan den Dunnen
00078565 - PubMed: Bernier 2012 - F - - - >28y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; abnormal ears; hearing loss; small abnormal thumbs SF3B4 SF3B4 1 1 Johan den Dunnen
00078566 - PubMed: Bernier 2012 - M - - - >2y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; cleft palate; tracheotomy; abnormal ears; radial ray abnormality (absent bilateral); abnormal thumbs (absent bilateral); delayed development; fused 1st and 2nd right metacarpals and bilateral foot deformities SF3B4 SF3B4 1 1 Johan den Dunnen
00078567 - PubMed: Bernier 2012 son of O-2 M - - - >1y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia; abnormal soft palate; abnormal ears; hearing loss; absent right thumb and small left thumb SF3B4 SF3B4 1 1 Johan den Dunnen
00078568 - PubMed: Bernier 2012 mother of O-1 F - - - >28y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; micrognathia; abnormal soft palate; abnormal ears; hearing loss; small abnormal thumbs; radioulnar synostosis (bilateral) SF3B4 SF3B4 1 1 Johan den Dunnen
00078569 - PubMed: Bernier 2012 - F - - - >23y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; abnormal ears (mild); hearing loss; abnormal thumbs (hypoplasia); radioulnar synostosis (bilateral); speech delay; asymmetric face, velopharyngeal insufficiency; and cervical ribs SF3B4 SF3B4 1 1 Johan den Dunnen
00078570 - PubMed: Bernier 2012 mother (in publication: father) of M-2, M-3 F - - - >49y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; cleft palate; abnormal ears (cupped); hearing loss; abnormal thumbs (small) SF3B4 SF3B4 1 1 Johan den Dunnen
00078571 - PubMed: Bernier 2012 son of M-1 M - - - >20y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes (sparse); midface retrusion; micrognathia; tracheotomy; abnormal ears (cupped, narrow canals); hearing loss; absent right thumb and small left thumb; radioulnar synostosis (right > left); delayed speech and fine motor; short stature (3-5%), dacryostenosis, and small first toes and first metatarsals SF3B4 SF3B4 1 1 Johan den Dunnen
00078572 - PubMed: Bernier 2012 son of M-1 M - - - >17y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; absent lower eyelashes; midface retrusion; micrognathia; abnormal palate; abnormal ears (cupped, narrow canals); hearing loss; small right thumb compared to left; radioulnar synostosis (left); delayed development; dacryostenosis, short first metatarsals, and sandal gap SF3B4 SF3B4 1 1 Johan den Dunnen
00078573 - PubMed: Bernier 2012 - F - - - >5y - - - AFD1 Nager syndrome; Absent lower eyelashes; micrognathia; cleft palate; hearing loss; radial ray abnormality; abnormal thumbs SF3B4 SF3B4 1 1 Johan den Dunnen
00078574 - PubMed: Bernier 2012 - F - - - >7y - - - AFD1 Nager syndrome; Downslanted palpebral fissures; midface retrusion; micrognathia; abnormal palate; abnormal ears; hearing loss; radial ray abnormality (short); abnormal thumbs (stiff bilateral) SF3B4 SF3B4 1 1 Johan den Dunnen
00078575 - - - M no Italy - - - - - AFD1 Nager syndrome SF3B4 SF3B4 1 1 Eva Trevisson
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