Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Melnick-Needles syndrome


Other Names for this Disease

  • Melnick-Needles osteodysplasty
  • MNS
  • Osteodysplasty of Melnick and Needles
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

What are the signs and symptoms of Melnick-Needles syndrome?

People with this condition usually have short stature, an abnormal curvature of the spine (scoliosis), partial dislocation (subluxation) of certain joints, and unusually long fingers and toes. They may have bowed limbs; underdeveloped, irregular ribs that can cause problems with breathing; and other abnormal or absent bones. Characteristic facial features may include bulging eyes with prominent brow ridges, excess hair growth on the forehead, round cheeks, a very small lower jaw and chin (micrognathia), and misaligned teeth. One side of the face may appear noticeably different from the other (facial asymmetry). Some individuals with this disorder have hearing loss.

In addition to skeletal abnormalities, individuals with Melnick-Needles syndrome may have obstruction of the ducts between the kidneys and bladder (ureters) or heart defects. Males with Melnick-Needles syndrome generally have much more severe signs and symptoms than females and in almost all cases die before or soon after birth.[1]

Last updated: 11/3/2010

The Human Phenotype Ontology provides the following list of signs and symptoms for Melnick-Needles syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormal cortical bone morphology 90%
Abnormality of the fontanelles and cranial sutures 90%
Abnormality of the metaphyses 90%
Arachnodactyly 90%
Hypertelorism 90%
Long toe 90%
Micrognathia 90%
Narrow chest 90%
Prominent supraorbital ridges 90%
Proptosis 90%
Short stature 90%
Short thorax 90%
Skeletal dysplasia 90%
Abnormal form of the vertebral bodies 50%
Abnormality of the cardiac septa 50%
Abnormality of the clavicles 50%
Abnormality of the hip bone 50%
Abnormality of the metacarpal bones 50%
Abnormality of the ribs 50%
Craniofacial hyperostosis 50%
Facial asymmetry 50%
Frontal bossing 50%
Full cheeks 50%
Hearing impairment 50%
Joint hypermobility 50%
Recurrent respiratory infections 50%
Reduced number of teeth 50%
Scoliosis 50%
Short distal phalanx of finger 50%
Vesicoureteral reflux 50%
Omphalocele 7.5%
Respiratory insufficiency 7.5%
Anterior concavity of thoracic vertebrae -
Cleft palate -
Coarse hair -
Cone-shaped epiphyses of the phalanges of the hand -
Coxa valga -
Delayed cranial suture closure -
Delayed eruption of teeth -
Failure to thrive -
Flared metaphyses -
Frontal hirsutism -
Gait disturbance -
Genu valgum -
Hip dislocation -
Hoarse voice -
Hydronephrosis -
Hypoplastic scapulae -
Kyphoscoliosis -
Limited elbow extension -
Long neck -
Macrotia -
Misalignment of teeth -
Mitral valve prolapse -
Motor delay -
Obtuse angle of mandible -
Osteolytic defects of the phalanges of the hand -
Pectus excavatum -
Pes planus -
Pulmonary hypertension -
Recurrent otitis media -
Short clavicles -
Short humerus -
Small face -
Stillbirth -
Strabismus -
Talipes equinovarus -
Tibial bowing -
Tricuspid valve prolapse -
Ureteral stenosis -
X-linked dominant inheritance -

Last updated: 9/2/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Melnick-Needles syndrome. Genetics Home Reference. November 2007; http://ghr.nlm.nih.gov/condition/melnick-needles-syndrome. Accessed 11/2/2010.


Other Names for this Disease
  • Melnick-Needles osteodysplasty
  • MNS
  • Osteodysplasty of Melnick and Needles
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.