| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 20 (23.3%) |
23389572 |
Correction of spine deformity in patients with Melnick-needles syndrome: report of 2 cases and literature review. Lykissas MG, Crawford AH, Shufflebarger HL, Gaines S, Permal V. J Pediatr Orthop. 2013;33(2):170-4. |
| Kyphoscoliosis | ||
| Females Follow-Up Studies Homo sapiens Osteochondrodysplasias Osteotomy | ||
| 20 (23.3%) |
9188664 |
Extended survival in a new case of ter Haar syndrome: further delineation of the syndrome. Wallerstein R, Scott CI Jr, Nicholson L. Am J Med Genet. 1997;70(3):267-72. |
| Hypertelorism Skeletal dysplasia Kyphoscoliosis | ||
| Bone and Bones Child Child, Preschool Congenital Heart Defects Developmental Disabilities Glaucoma Homo sapiens Male Survivors Syndrome | ||
| 20 (23.3%) |
6874941 |
Melnick-Needles syndrome: osteodysplasty with kyphoscoliosis. Bartolozzi P, Calabrese C, Falcini F, Giovannucci Uzzielli ML, Maggini M. J Pediatr Orthop. 1983;3(3):387-91. |
| Kyphoscoliosis | ||
| Bone and Bones Child Child, Preschool Face Females Homo sapiens Syndrome | ||
| 20 (23.3%) |
847141 |
Osteodysplastia (Melnick-Needles syndrome). Radiological quiz. Moadel E, Bryk D. Radiology. 1977;123(1):154, 206. |
| Pectus excavatum | ||
| Bone and Bones Child, Preschool Females Homo sapiens Mandibulofacial Dysostosis Syndrome | ||
| 25 (21.2%) |
29575627 |
A recurrent mutation causing Melnick-Needles syndrome in females confers a severe, lethal phenotype in males. Spencer C, Lombaard H, Wise A, Krause A, Robertson SP. Am J Med Genet A. 2018;176(4):980-984. |
| Skeletal dysplasia | ||
| FLNA | ||
| p|SUB|A|1188|T;RS#:28935472 | ||
| Adult Alleles Facies Fatal Outcome Females Filamins Genes, X-Linked Genotype Homo sapiens Male Missense Mutation Mutation Osteochondrodysplasias Phenotype Pregnancy Syndrome | ||
| 25 (21.2%) |
25755106 |
Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects. Parrini E, Mei D, Pisanti MA, Catarzi S, Pucatti D, Bianchini C, Mascalchi M, Bertini E, Morrone A, Cavaliere ML, Guerrini R. J Med Genet. 2015;52(6):405-12. |
| Skeletal dysplasia | ||
| FLNA | ||
| c|SUB|G|622|C;RS#:797045163 p|SUB|G|208|R;RS#:797045163 rs797045163 | ||
| Base Sequence Bone and Bones Brain Computational Biology DNA Mutational Analysis Epilepsy Exons Females Filamins Genes, X-Linked Genetic Association Studies High-Throughput Nucleotide Sequencing Homo sapiens Lymphocyte Magnetic Resonance Imaging Missense Mutation Molecular Sequence Data Mutation Nonsense Mediated mRNA Decay Osteochondrodysplasias Periventricular Nodular Heterotopia RNA Splicing Sequence Alignment Syndrome | ||
| 25 (21.2%) |
20888935 |
Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. Masurel-Paulet A, Haan E, Thompson EM, Goizet C, Thauvin-Robinet C, Tai A, Kennedy D, Smith G, Khong TY, Sole G, Guerineau E, Coupry I, Huet F, Robertson S, Faivre L. Eur J Med Genet. 2011;54(1):25-8. |
| Joint hypermobility Skeletal dysplasia | ||
| FLNA | ||
| c|DEL|994|G | ||
| Child Contractile Proteins DNA Mutational Analysis Filamins Homo sapiens Male Microfilament Proteins Mutation Periventricular Nodular Heterotopia | ||
| 25 (21.2%) |
20072009 |
Chronic temporomandibular joint dislocation by mandibular distraction in a patient with Melnick-needles syndrome. Kelley P, Mata C, Da Silveira A. J Craniofac Surg. 2010;21(1):174-6. |
| Joint dislocation | ||
| Cephalometry Females Homo sapiens Mandible Micrognathism Orthodontics, Corrective Osteogenesis, Distraction Osteotomy Retrognathia Syndrome Temporomandibular Joint Disorders X-Ray Computed Tomography Young Adult | ||
| 25 (21.2%) |
16596676 |
Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. Zenker M, Nahrlich L, Sticht H, Reis A, Horn D. Am J Med Genet A. 2006;140(10):1069-73. |
| Skeletal dysplasia | ||
| c|SUB|G|1728|C;RS#:137853316 g|SUB|G|5182|T p|SUB|S|1186|L;RS#:137853312 rs137853312 rs137853316 | ||
| Adult Amino Acid Sequence Congenital Hand Deformities Contractile Proteins Craniofacial Abnormalities Craniosynostosis DNA Mutational Analysis Fatal Outcome Filamins Genotype Homo sapiens Male Microfilament Proteins Molecular Sequence Data Mutation Phenotype Sequence Homology, Amino Acid | ||
| 25 (21.2%) |
15940695 |
A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. Hidalgo-Bravo A, Pompa-Mera EN, Kofman-Alfaro S, Gonzalez-Bonilla CR, Zenteno JC. Am J Med Genet A. 2005;136(2):190-3. |
| Skeletal dysplasia | ||
| p|SUB|D|203|Y;RS#:137853314 rs137853314 | ||
| Adult Base Sequence Bone Diseases, Developmental Chromosomes, Human, X Cleft Palate Contractile Proteins Craniofacial Abnormalities DNA DNA Mutational Analysis Females Filamins Growth Disorders Homo sapiens Microfilament Proteins Missense Mutation Syndactyly Syndrome |
Total: 35
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000270 | Delayed cranial suture closure | Very frequent (99-80%) |
| HP:0000316 | Hypertelorism | Very frequent (99-80%) |
| HP:0000336 | Prominent supraorbital ridges | Very frequent (99-80%) |
| HP:0000347 | Micrognathia | Very frequent (99-80%) |
| HP:0000520 | Proptosis | Very frequent (99-80%) |
| HP:0000774 | Narrow chest | Very frequent (99-80%) |
| HP:0000944 | Abnormality of the metaphysis | Very frequent (99-80%) |
| HP:0003103 | Abnormal cortical bone morphology | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0006487 | Bowing of the long bones | Very frequent (99-80%) |
| HP:0010306 | Short thorax | Very frequent (99-80%) |
| HP:0000076 | Vesicoureteral reflux | Frequent (79-30%) |
| HP:0000126 | Hydronephrosis | Frequent (79-30%) |
| HP:0000293 | Full cheeks | Frequent (79-30%) |
| HP:0000324 | Facial asymmetry | Frequent (79-30%) |
| HP:0000365 | Hearing impairment | Frequent (79-30%) |
| HP:0000684 | Delayed eruption of teeth | Frequent (79-30%) |
| HP:0000692 | Misalignment of teeth | Frequent (79-30%) |
| HP:0000772 | Abnormality of the ribs | Frequent (79-30%) |
| HP:0000894 | Short clavicles | Frequent (79-30%) |
| HP:0001671 | Abnormal cardiac septum morphology | Frequent (79-30%) |
| HP:0002007 | Frontal bossing | Frequent (79-30%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0002673 | Coxa valga | Frequent (79-30%) |
| HP:0002827 | Hip dislocation | Frequent (79-30%) |
| HP:0002879 | Anisospondyly | Frequent (79-30%) |
| HP:0003172 | Abnormality of the pubic bone | Frequent (79-30%) |
| HP:0004493 | Craniofacial hyperostosis | Frequent (79-30%) |
| HP:0005692 | Joint hyperflexibility | Frequent (79-30%) |
| HP:0009771 | Osteolytic defects of the phalanges of the hand | Frequent (79-30%) |
| HP:0009882 | Short distal phalanx of finger | Frequent (79-30%) |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand | Frequent (79-30%) |
| HP:0001539 | Omphalocele | Occasional (29-5%) |
| HP:0002093 | Respiratory insufficiency | Occasional (29-5%) |
Total: 23
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0002652 | Skeletal dysplasia | 5 |
| HP:0002870 | Obstructive sleep apnea | 3 |
| HP:0004322 | Short stature | 2 |
| HP:0030045 | Serpentine fibula | 2 |
| HP:0000316 | Hypertelorism | 1 |
| HP:0000347 | Micrognathia | 1 |
| HP:0000486 | Strabismus | 1 |
| HP:0000618 | Blindness | 1 |
| HP:0000824 | Growth hormone deficiency | 1 |
| HP:0001289 | Confusion | 1 |
| HP:0001373 | Joint dislocation | 1 |
| HP:0001562 | Oligohydramnios | 1 |
| HP:0001824 | Weight loss | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002694 | Sclerosis of skull base | 1 |
| HP:0002751 | Kyphoscoliosis | 1 |
| HP:0002777 | Tracheal stenosis | 1 |
| HP:0002878 | Respiratory failure | 1 |
| HP:0005731 | Cortical irregularity | 1 |
| HP:0008586 | Hypoplasia of the cochlea | 1 |
| HP:0010535 | Sleep apnea | 1 |
| HP:0011220 | Prominent forehead | 1 |
| HP:0031456 | Ectopic pregnancy | 1 |