• chronic diarrhea: Diarrhea which persists over a long period.
• delay in gross motor milestones: Normal feats of progress take up to three times as long to meet the generally accepted time frames.
• developmental delay: Unable to meet milestones for various physical and mental activities.
• dolicocephaly: This means having a long skull with prominent forehead - there is a measurement that is taken to determine if someone is dolicocephalic, but you can get the impression by looking at someone that their head is longer than usual for their age group.
• downslanting palpebral fissures: The eye openings (the horizontal slit of our eye) is downslanted, which means that the outer corner of the eye is lower than the inner corner - for contrast, individuals with Down syndrome typically have upslanted palpebral fissures, so the eyes slant up, as in Asian populations (another reason for the earlier tendency to call Down syndrome 'mongolism".)
• dysplastic ears: Abnormally developed or poorly formed ears - the external part of the ear may not be folded as much as usual. The ears may also be large in deletion 22q13, but this is not the same as dysplastic.
• epicanthal folds: The vertical fold of skin on the inner corner of the eye (on each side of the nose) is excessive and covers the inner corner of the eye. This feature is typically seen in individuals with Down syndrome and it is also a normal characteristic in certain races, such as Asians - that is why Down syndrome was initially referred to as Mongolism - the epicanthal fold is a normal trait in people of Mongolia.
• gastrointestinal reflux: The contents of the stomach flow back up into the esophagus because of a problem with the muscle.
• high arched palate: The palate is unusually presented in a high arch.
• hypotonia: Decreased tone of the skeletal muscles characterized by weakness and "floppiness".
• lymphedema: The swelling of a body part caused by the abnormal accumulation of lymph fluid.
• macrocephaly: Large head for which the cause may be unknown. It is not the same as fluid on the brain, which is typically called hydrocephaly and may require a shunt.
• mild dilation of cerebral ventricles: The ventricles of the brain are enlarged and may be caused by the collection of cerbrospinal fluid and may require a shunt.
• mild facial dysmorphic features: This refers to minor facial anomalies that occur fairly frequently and don't pose a significant health risk; such as ptosis, epicanthal folds, or downslanting palpebral fissures. One of these features as an isolated finding in an individual would not be of concern since they occur fairly frequently in the general population. However, the presence of two or more minor anomalies may prompt a search for major defects and may aid in the diagnosis of a particular syndrome.
• normal to accelerated growth: The patterns are normal or increased for growth.
• ptosis: Drooping of the upper eyelid - in other words, the eyes may look partially shut as if they are ready to fall asleep. Wandering eye is usually referred to as strabismus.
• reactive airway disease: Asthma or wheezing.
• recurrent otitis media: Otitis media is inflammation of the middle ear, so in plain English, this is recurrent ear infections.
• seizures: There may be mild seizures in which the child "tunes out" but does not have any physical spasms.
• simian crease: A single crease (line) along the middle of the palm of the hand. Usually there are three major creases on the palm -a crease that goes from the pinkie side of the palm and curves up toward the index finger, another crease that starts on the pinkie side of the hand and goes between the index finger and the thumb and the third crease that goes from above the thumb toward the wrist. In individuals with a single palmar crease, there is a straight line across the palm - It was initially called a simian crease because it was thought to resemble a monkey's hand - now that term is considered to be insensitive. This feature is now commonly called a single palmar crease.
• speech difficulties: Growling, low gutteral utterances.
• syndactyl: Webbing, or an extra fold of skin between the digits - in 22q13 deletion, we sometimes, but not always, see webbing between the second and third toes.
• vesicoureteral reflux: (VUR) refers to a condition in which urine flows from the bladder, back up the ureter, and back into the kidneys.
