Disease #00781 (MNS (Melnick-Needles syndrome (MNS)), OMIM:309350)

Official abbreviation MNS
Name Melnick-Needles syndrome (MNS)
OMIM ID 309350
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 1 gene FLNA
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +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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00028694 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028695 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028696 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028697 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028698 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028699 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028700 - PubMed: Robertson 2006 has a normal monozygotic twin sister F - - - - - - - MNS - FLNA FLNA 1 2 Yu Sun
00028701 - PubMed: Santos 2010 2-generation family, affected child of mother (Fam2PatI1) M no Brazil - 00y00m00d - - - MNS see paper; died immediately after birth (respiratory difficulties); pregnancy oligohydramnios, bladder dilation, scoliosis, club-feet; birth 34w, caesarean section, birth weight 1,000 g (<3rd centile), length 39.5 cm (<3rd centile), OFC 26.0 cm (<3rd centile); ... FLNA FLNA 1 1 Yu Sun
00028702 - PubMed: Santos 2010 2-generation family, mother and affected child (Fam2PatII1) F no Brazil - >26y - - - MNS see paper; karyotype 46XX, hoarse voice, asymmetric face, prominent eyes, full cheeks, micrognathia, narrow shoulders, excised post-axial polydactyly (left hand), lower limb asymmetry, weight 51 kg, height 162.5 cm, OFC 55.5 cm; X-ray showed mastoid sclerosis, paranasal sinus hypoplasia, irregular clavicles with medial flare, ribbon-like ribs, short scapulae, cortical thickening, anterior concavity thoracic vertebrae, iliac flare, narrow pelvis FLNA FLNA 1 2 Yu Sun
00028716 - PubMed: Robertson 2003, PubMed: Albano 1999 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 2 Yu Sun
00028717 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028718 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028719 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 1 Yu Sun
00028720 - PubMed: Robertson 2003, PubMed: Kristiansen 2002 - F - - - - - - - MNS short stature, bowed bones, abnormal digits FLNA FLNA 1 2 Yu Sun
00028728 - PubMed: Robertson 2003 - F - - - - - - - MNS short stature, bowed bones, (abnormal digits, cleft palate) FLNA FLNA 1 1 Yu Sun
00028852 - PubMed: Santos 2010 2-generation family, affected child from mother (Fam1PatI1) M no Brazil - 00y00m01d - - - MNS see paper; died 30 min after birth; prenatal ultrasonography showed microphthalmos, omphalocele, kyphoscoliosis, clubfeet, polyhydramnios; delivery at 34w, caesarean section, birth weight 1,590 g (<3rd centile), birth length 41.3 cm (<3rd centile), OFC 26.5 cm (<3rd centile); ... FLNA FLNA 1 1 Yu Sun
00028853 - PubMed: Santos 2010 2-generation family, mother and affected child (Fam1PatII1) F no Brazil - >40y - - - MNS 15y permanent teeth removed (cavities); prominent eyes, full cheeks, micrognathia, thoracolumbar kyphosis; 40y- weight 55 kg, heigth 157.8 cm, OFC 52 cm, sclerosis skull base, paranasal sinus hypoplasia, short scapulae, irregular clavicles with medial flare, ribbon-like ribs, iliac flare, narrow pelvis, bowing long bones FLNA FLNA 1 2 Yu Sun
00028880 - PubMed: Foley 2010 3-generation family, 3 affecteds, mother (II2) and 2 daugthers (III1, III2) F no New Zealand - >42y - - - MNS see paper; presented with right-sided hemiparesis, global aphasia following left middle cerebral artery stroke; marked cortic irregularity ribs, flaring of ilia, mild scoliosis, bilateral minor modelling deformities lower femoral shafts; height 152 cm, moderate right-sided hydronephrosis FLNA FLNA 1 3 Johan den Dunnen
00028881 - PubMed: Foley 2010 daugther (III1) of mother (II2) F no New Zealand - >23y - - - MNS see paper; 6y 5m history of severe sleep apnoea, weight loss, failure to thrive; developed severe respiratory distress, required an emergency tracheostomy remaining in situ; decreased hearing bilaterally, tinnitus; 26y height 144 cm, prominent supra-orbital ridge, exorbitism, mild hypertelorism, full cheeks, micrognathia; 19y new onset weakness, incoordination her right upper limb, abdomen typical bony features of MNS, MRI brain enhancing lesion left centrum semiovale, cerebrospinal fluid analysis elevated IgG index (0.960) with oligoclonal bands FLNA FLNA 1 1 Johan den Dunnen
00028882 - PubMed: Foley 2010 daugther (III2) of II2 F no New Zealand - - - - - MNS see paper; asymptomatic but typical clinical and radiological manifestations of MNS FLNA FLNA 1 1 Johan den Dunnen
00028883 - PubMed: Foley 2010, case 3 in PubMed: Dereymaeker 1986 - F no Belgium - >32y - - - MNS see paper; born at term, birth weight 4.050 kg, pregnancy complicated by polyhydramnios; frequent respiratory infections dominated early childhood; childhood developed pes cavus, progressive limitation movement hips/knees/elbows, thoracic hypoplasia, mixed conductive and sensorineural hearing loss, cognitive function unimpaired; 32y-limited mobility, employment as office manager, frequent intercurrent respiratory infections (no stridor or fixed airway obstruction); teeth small, brittle, thin enamel; CT-scan bilateral deficiency modiolus, sclerosis incus/stapes basis hearing loss; height 143 cm; supraorbital hyperostosis, exorbitism, full eyebrows, low anterior hairline (fig. 3); ulnar deviation wrists, spatulate thumbs, chin small; thorax hypoplastic, no scoliosis, ... FLNA FLNA 1 1 Johan den Dunnen
00028884 - PubMed: Foley 2010, Journal: Foley 2010, PubMed: Fennell 2015, Journal: Fennell 2015 - F no New Zealand - 02y06m - - - MNS see paper; 4m-referred prior to surgery for craniosynostosis, skullabnormal shap, CT-scan showed synostosis of coronal, lambdoid and posterior sagittal sutures; fixed flexion deformities at wrists, metacarpophalangeal joints, similar milder deformities elbows/knees; forearms/forelegs bowed; genitalianormal; hip abduction limited; ECG atrial septal defect; corneal hypoplasia with shallow anterior chamber, marked hypermetropia but normal fundi, ... FLNA FLNA 1 1 Stephen Robertson
00028885 - PubMed: Santos 2010 2-generation family, mother (I1) and affected child (II1) F no Brazil - >40y - - - MNS see paper; karyotype 46XX; 15y permanent teeth removed (cavities); prominent eyes, full cheeks, micrognathia, thoracolumbar kyphosis; 40y- weight 55 kg, heigth 157.8 cm, OFC 52 cm, sclerosis skull base, paranasal sinus hypoplasia, short scapulae, irregular clavicles with medial flare, ribbon-like ribs, iliac flare, narrow pelvis, bowing long bones - - - 2 Johan den Dunnen
00051527 - - - F - France - - - - - MNS - FLNA FLNA 1 1 Sébastien Moutton
00051529 - - - ? ? France - - - - - MNS - FLNA FLNA 1 1 Sébastien Moutton
00051530 - - - F - France - - - - - MNS - FLNA FLNA 1 1 Sébastien Moutton
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