In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]

The surgical procedures performed will depend upon the severity and location of the anatomical abnormalities and their associated symptoms. [rarediseases.org]

In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]

In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]

In some cases, the fibrous joints between certain bones in the skull (sagittal sutures) close prematurely (craniosynostosis), causing the head to appear abnormally long and narrow (dolichocephaly). [rarediseases.org]

Affected individuals may have unusually long, thin fingers and/or toes (arachnodactyly), permanently flexed fingers (camptodactyly), and/or excessive extension (hyperextension) of the thumbs. [rarediseases.org]

In some cases, abnormalities involving the joints, tendons, muscles, and bones (e.g., flexion contractures, malformations of the fingers and/or toes, scoliosis) may be treated with orthopedic techniques potentially in combination with surgery. [rarediseases.org]

[…] facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324 21 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581 22 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055 23 congenital muscular torticollis [malacards.org]

stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387 5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028 6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347 7 downslanted palpebral fissures 58 31 hallmark [malacards.org]

Symptoms * Prenatal growth retardation * Postnatal growth retardation * Mental retardation * Head malformations * Facial malformations * Short neck * Finger malformations * Toe malformations * Scoliosis * Skeletal malformations * Genital abnormalities [checkorphan.org]

neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470 15 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250 16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508 17 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252 18 [malacards.org]

The child had short neck, deep sternal notch and scoliosis. The scrotal sac was underdeveloped with bilateral hypoplastic undescended testis. Neurologically the child was spastic with scissoring of legs and hypertonia. [indianpediatrics.net]

Additional abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other skeletal malformations; genital abnormalities, particularly in affected males [rarediseases.org]

nasal bridge Long chin Prominent nose and chin Prominent nose Broad nasal bridge Ptosis Blepharoptosis Hypotonia Large chin Broad nasal bridge Seizures Prominent nasal bridge Multiple joint contractures M: male; F: female; : feature present; : feature [hindawi.com]

B, Individual IV:8, showing dysmorphic ears and broad nasal bridge. C, Patient IV:10, with dysmorphic ears, broad nasal bridge, hypertelorism, and long nasolabial philtrum. [jamanetwork.com]

nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]

On examination, the child had dysmorphic features in the form of hypertelorism, down slanting eyes, low-set large ears, prominent metopic suture, bulbous nose, mandibular hypoplasia and high arched palate (Fig. 1). [indianpediatrics.net]

nose with a broad nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]

In addition, in some cases, electroencephalography (EEG), which records the brain's electrical impulses, may reveal brain wave patterns that are characteristic of certain types of seizure activity. [rarediseases.org]

In addition, most affected infants and children have severe to profound mental retardation. However, in rare cases (i.e., trisomy 15q25-qter), only mild mental retardation may be present. [rarediseases.org]

800) 242-8721 Email: [email protected] Website: Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Phone: (301) 251-4925 Toll-free: (888) 205-2311 Website: NIH/National Institute of Neurological Disorders and Stroke [rarediseases.org]