Osteodysplasty, Melnick-Needles type

General Information (adopted from Orphanet):

Synonyms, Signs: OSTEODYSPLASTY OF MELNICK AND NEEDLES
MELNICK-NEEDLES OSTEODYSPLASTY
MNS
Melnick-Needles syndrome
Number of Symptoms 94
OrphanetNr: 2484
OMIM Id: 309350
ICD-10: Q77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: > 50 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Fronto-otopalatodigital syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Rare disease with glaucoma as a major feature
 -Rare eye disease
 -Rare genetic disease
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000071) Ureteral stenosis 9 / 7739
2
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
3
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
4
 (HPO:0000126) Hydronephrosis 119 / 7739
5
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
6
 (HPO:0000347) Micrognathia 426 / 7739
7
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
8
 (HPO:0000520) Proptosis Very frequent [Orphanet] 192 / 7739
9
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
10
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
11
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
12
 (HPO:0011335) Frontal hirsutism 4 / 7739
13
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
14
 (HPO:0000472) Long neck 8 / 7739
15
 (HPO:0000692) Misalignment of teeth 18 / 7739
16
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
17
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
18
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
19
 (HPO:0004437) Cranial hyperostosis Frequent [Orphanet] 55 / 7739
20
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
21
 (HPO:0000175) Cleft palate 349 / 7739
22
 (HPO:0005446) Obtuse angle of mandible 1 / 7739
23
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
24
 (HPO:0000274) Small face 18 / 7739
25
 (HPO:0000486) Strabismus 576 / 7739
26
 (HPO:0000400) Macrotia 108 / 7739
27
 (HPO:0000403) Recurrent otitis media 61 / 7739
28
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
29
 (HPO:0001288) Gait disturbance 318 / 7739
30
 (HPO:0001270) Motor delay 322 / 7739
31
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
32
 (HPO:0011867) Abnormality of the wing of the ilium Frequent [Orphanet] 123 / 7739
33
 (HPO:0010579) Cone-shaped epiphysis 54 / 7739
34
 (HPO:0001377) Limited elbow extension 38 / 7739
35
 (HPO:0009882) Short distal phalanx of finger Frequent [Orphanet] 125 / 7739
36
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
37
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
38
 (HPO:0001833) Long foot Very frequent [Orphanet] 33 / 7739
39
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
40
 (HPO:0000894) Short clavicles 30 / 7739
41
 (HPO:0002751) Kyphoscoliosis 131 / 7739
42
 (HPO:0003015) Flared metaphysis 44 / 7739
43
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
44
 (HPO:0005792) Short humerus 34 / 7739
45
 (HPO:0009771) Osteolytic defects of the phalanges of the hand 17 / 7739
46
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
47
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
48
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
49
 (HPO:0001763) Pes planus 176 / 7739
50
 (HPO:0002673) Coxa valga 57 / 7739
51
 (HPO:0005257) Thoracic hypoplasia Very frequent [Orphanet] 79 / 7739
52
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
53
 (HPO:0001762) Talipes equinovarus 309 / 7739
54
 (HPO:0004611) Anterior concavity of thoracic vertebrae 2 / 7739
55
 (HPO:0002982) Tibial bowing 36 / 7739
56
 (HPO:0002827) Hip dislocation 94 / 7739
57
 (HPO:0000882) Hypoplastic scapulae 28 / 7739
58
 (HPO:0010230) Cone-shaped epiphyses of the phalanges of the hand 34 / 7739
59
 (HPO:0002857) Genu valgum 144 / 7739
60
 (HPO:0000767) Pectus excavatum 244 / 7739
61
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
62
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
63
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
64
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
65
 (HPO:0001539) Omphalocele Occasional [Orphanet] 102 / 7739
66
 (HPO:0001537) Umbilical hernia 206 / 7739
67
 (HPO:0001508) Failure to thrive 454 / 7739
68
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
69
 (HPO:0002208) Coarse hair 58 / 7739
70
 (HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
71
 (HPO:0001704) Tricuspid valve prolapse 2 / 7739
72
 (HPO:0002092) Pulmonary hypertension 109 / 7739
73
 (HPO:0001634) Mitral valve prolapse 69 / 7739
74
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
75
 (HPO:0001609) Hoarse voice 34 / 7739
76
 (HPO:0002205) Recurrent respiratory infections Frequent [Orphanet] 254 / 7739
77
 (OMIM) Delayed paranasal sinus development 1 / 7739
78
 (HPO:0003826) Stillbirth 40 / 7739
79
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
80
 (OMIM) Prominent hirsute forehead 1 / 7739
81
 (OMIM) Bowing of radius 1 / 7739
82
 (OMIM) Iliac flaring 1 / 7739
83
 (OMIM) Bowing of ulna 1 / 7739
84
 (OMIM) Hypoplastic coronoid process 1 / 7739
85
 (OMIM) Irregular ribbon-like ribs 1 / 7739
86
 (OMIM) Bowing of tibia 1 / 7739
87
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
88
 (OMIM) Noncompaction of ventricular myocardium 1 / 7739
89
 (OMIM) Skin hyperlaxity (males) 1 / 7739
90
 (OMIM) Bowing of humerus 1 / 7739
91
 (OMIM) Short to normal stature 1 / 7739
92
 (OMIM) Small mandible with obtuse angle 1 / 7739
93
 (OMIM) Dense skull base 1 / 7739
94
 (OMIM) Tall vertebrae 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Melnick and Needles (1966) described families that contained multiple cases in multiple generations of a severe congenital bone disorder characterized by typical facies (exophthalmos, full cheeks, micrognathia and malalignment of teeth), flaring of the metaphyses of long bones, ...
Molecular genetics OMIM X-linked inheritance is established by the demonstration of Robertson et al. (2003) that Melnick-Needles syndrome is caused by gain-of-function mutations in the gene encoding filamin A (FLNA; 300017). Mutations in the FLNA gene were found in 12 presumably ...