Melnick-Needles syndrome

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

Input patient's signs and symptoms

Narrow down the case reports

Total: 41 (papers)

(per page)

Matched Phenotype Gene Mutation MeSH

Rank (Similarity)	PMID (PMCID)
1 (59.0%)	21274303 (3005751)	Melnick-Needles syndrome associated with growth hormone deficiency: a case report. Akn L, Adal E, Akn MA, Kurtoglu S. J Clin Res Pediatr Endocrinol. 2009;1(5):248-51. [ Show abstract ] [ Hide abstract ]
		Full cheeks Micrognathia
		GH1

		Child Facies Females Homo sapiens Human Growth Hormone Osteochondrodysplasias Phenotype
1 (59.0%)	9706640	[Melnick-Needles syndrome. Report of a case]. Greco F, Mauceri L, Finocchiaro M, Fiumara A, Sorge G. Pediatr Med Chir. 1998;20(2):149-52. [ Show abstract ] [ Hide abstract ]
		Full cheeks Micrognathia


		Facies Females Genes, Dominant Homo sapiens Osteochondrodysplasias Syndrome X Chromosome
1 (59.0%)	9567619	[The Melnick-Needless syndrome (osteodysplasia). Report of a clinical case]. Tripi TR. Minerva Stomatol. 1997;46(12):687-92. [ Show abstract ] [ Hide abstract ]
		Full cheeks Micrognathia


		Bone Diseases, Developmental Cephalometry Females Homo sapiens Odontodysplasia Panoramic Radiography Syndrome Teleradiology
4 (57.8%)	20199649	The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia. Miller SD, Glynn SF, Kiely JL, McNicholas WT. Respirology. 2010;15(2):377-9. [ Show abstract ] [ Hide abstract ]
		Micrognathia
		CENPJ

		Child Continuous Positive Airway Pressure Females Homo sapiens Male Mandible Mandibulofacial Dysostosis Micrognathism Osteochondrodysplasias Pierre Robin Syndrome Polysomnography Sleep Apnea, Obstructive Young Adult
4 (57.8%)	15125292	Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. Curran AJ, O'Dwyer TP, Blayney A. J Laryngol Otol. 1993;107(7):647-8. [ Show abstract ] [ Hide abstract ]
		Micrognathia


		Child Females Homo sapiens Osteochondrodysplasias Sleep Apnea Syndromes
4 (57.8%)	105122	Melnick-Needles syndrome. Perry LD, Edwards WC, Bramson RT. J Pediatr Ophthalmol Strabismus. 1978;15(4):226-30. [ Show abstract ] [ Hide abstract ]
		Micrognathia


		Bone and Bones Child Cornea Exophthalmos Eye Abnormalities Face Females Homo sapiens Male Sclera Strabismus Syndrome
7 (55.1%)	19303467	Frank-ter Haar syndrome with unusual clinical features. Dundar M, Saatci C, Tasdemir S, Akcakus M, Caglayan AO, Ozkul Y. Eur J Med Genet. 2009;52(4):247-9. [ Show abstract ] [ Hide abstract ]
		Brachycephaly Full cheeks Adducted thumb Bowing of the long bones
		ZNF420

		Congenital Hand Deformities Congenital Heart Defects Craniofacial Abnormalities Fatal Outcome Genes, Recessive Homo sapiens Infant Male Osteochondrodysplasias Syndrome
8 (48.0%)	17159511	Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients. Albano LM, Bertola DR, Barba MF, Valente M, Robertson SP, Kim CA. Clin Dysmorphol. 2007;16(1):27-33. [ Show abstract ] [ Hide abstract ]
		Wormian bones Serpentine fibula
		FLNA FLNB FLNC
		rs387906749
		Alleles Child Contractile Proteins DNA Mutational Analysis Females Filamins Hajdu-Cheney Syndrome Homo sapiens Male Microfilament Proteins Osteochondrodysplasias Phenotype Polycystic Kidney Diseases
9 (47.0%)	7778598	Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Hamel BC, Draaisma JM, Pinckers AJ, Boetes C, Hoppe RL, Ropers HH, Brunner HG. Am J Med Genet. 1995;56(3):312-6. [ Show abstract ] [ Hide abstract ]
		Flat occiput Prominent coccyx


		Differential Diagnosis Family Fatal Outcome Homo sapiens Infant, Newborn Male Osteochondrodysplasias Phenotype Terminology as Topic
10 (46.2%)	8276023	Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. Majewski F, Enders H, Ranke MB, Voit T. Eur J Pediatr. 1993;152(11):916-21. [ Show abstract ] [ Hide abstract ]
		Short neck Metatarsus adductus


		Child Differential Diagnosis Females Fibula Homo sapiens Osteochondrodysplasias Polycystic Kidney Diseases Syndrome

Phenotype(s) retrieved from Orphanet

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%)

Phenotype(s) retrieved from case reports

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

Causative gene(s) retrieved from Orphanet

Total: 1

Gene Symbol	Gene Name	Entrez Gene ID
FLNA	filamin A	2316