Nager syndrome

Also known as: acrofacial dysostosis 1, Nager type; AFD1; NAFD; Nager acrofacial dysostosis; Nager acrofacial dysostosis syndrome; preaxial acrofacial dysostosis; preaxial mandibulofacial dysostosis

Definition

Genetics Home Reference

Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals.

Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth called a cleft palate. These abnormalities frequently cause feeding problems in infants with Nager syndrome. The airway is usually partially blocked due to the micrognathia, which can lead to life-threatening breathing problems.

People with Nager syndrome often have eyes that slant downward (downslanting palpebral fissures), no eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small or unusually formed ears, and about 60 percent have hearing loss caused by defects in the middle ear (conductive hearing loss). Nager syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment.

Individuals with Nager syndrome have bone abnormalities in their hands and arms. The most common abnormality is malformed or absent thumbs. Affected individuals may also have fingers that are unusually curved (clinodactyly) or fused together (syndactyly). Their forearms may be shortened due to the partial or complete absence of a bone called the radius. People with Nager syndrome sometimes have difficulty fully extending their elbows. This condition can also cause bone abnormalities in the legs and feet.

Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, and urinary tract.

Go To Source: Genetics Home Reference

Orphanet

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Malar flattening Hypotrophic malar bone, Malar hypoplasia, Decreased size of malar bone, Zygomatic flattening, Underdevelopment of malar bone, Depressed malar region [more] Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Feeding difficulties Feeding problems, Poor feeding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Absent thumb Aplasia of the thumb, Thumb aplasia Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Cleft palate Cleft of hard and soft palate, Palatoschisis, Uranostaphyloschisis [more] Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Eyelid coloboma Notched eyelid, Full thickness defect of the eyelid, Cleft eyelid [more] A short discontinuity of the margin of the lower or upper eyelid.
Micrognathia Lower jaw hypoplasia, Mandibular deficiency, Retrusion of lower jaw, Hypoplastic mandible condyle, Small mandible, Decreased projection of lower jaw, Micrognathia of lower jaw, Mandibular retrognathia, Mandibular retrusion, Decreased size of lower jaw, Micromandible, Underdevelopment of lower jaw, Hypotrophic mandible, Hypotrophic lower jaw, Robin mandible, Little mandible, Underdevelopment of mandible, Small jaw, Decreased size of mandible, Hypoplastic mandible, Little lower jaw, Decreased projection of mandible, Mandibular micrognathia, Lower jaw retrognathia [more] Developmental hypoplasia of the mandible.
Downslanted palpebral fissures Downslanting palpebral fissure, Downward slanted palpebral fissures, Antimongoloid slant of palpebral fissures, Downward slanting palpebral fissures, Down-slanting palpebral fissure, Downward slanting of the opening between the eyelids, Antimongoloid slanted palpebral fissures, Palpebral fissures down-slanted, Antimongoloid eye slant [more] The palpebral fissure inclination is more than two standard deviations below the mean.
Abnormal heart morphology Congenital heart defects, Abnormally shaped heart, Cardiac anomalies, Abnormality of cardiac morphology, Abnormality of the heart [more] Any structural anomaly of the heart.
Coloboma Ocular colobomas, Notched pupil A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa.
Abnormality of the outer ear External ear malformations, Abnormality of the auricle, Abnormality of the external ear, Malformed pinnae, Ear anomalies, Outer ear abnormality, Abnormal pinnae [more] An abnormality of the external ear.
Clinodactyly Curvature of digit An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe).
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Syndactyly Webbed fingers or toes Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as "symphalangism".
Conductive hearing impairment Conduction deafness, Conductive deafness, Conductive hearing loss [more] An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.

Other Classifiers and IDs