Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar creases, undescended testes, and hypoplastic scrotum. [ncbi.nlm.nih.gov]

The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. Boys have undescended testes and hypoplastic scrotum. [malacards.org]

Less than 20 cases have been described The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases, and clinodactyly. [dovemed.com]

[…] lobules [ more ] 0009748 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Microphthalmia Abnormally small eyeball 0000568 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]

Four forms of this syndrome are recognized: 6-40 repetitions weak form 41-60 repetitions middle form 61-200 repetitions strong form 200 repetitions full mutation, influencing the phenotype Since it is an X linked mutation men are more affected than women [embryology.ch]

More recently, ADAM8 has been strongly associated with allergic airway inflammation (AAI) in humans and mice, and additional studies of ADAM8 are beginning to shed light on its roles in asthma pathogenesis [ 33 ]. [molecularcytogenetics.biomedcentral.com]

More recently, ADAM8 has been strongly associated with allergic airway inflammation (AAI) in humans and mice, and additional studies of ADAM8 are beginning to shed light on its roles in asthma pathogenesis [33]. [cyberleninka.org]

They showed a phenotype consistent with the “ring syndrome” with failure to thrive, minor dysmporphic features and no major anomalies. [tp.amegroups.com]

She was found to have normal hearing acuity after birth. A cardiac ultrasound examination showed a large patent ductus arteriosus. She had no feeding difficulties. Abdominal organs were without structural abnormalities. [molecularcytogenetics.biomedcentral.com]

While patient 1 presented with clinical features usually found in patients with r(10) and terminal 10q deletion, patient 2 presented characteristics so far not described in other patients with r(10), such as Dandy-Walker variant, osteopenia, semi-flexed [ncbi.nlm.nih.gov]

There was no speech development. Muscle tone was decreased and deep tendon reflexes were normal. She displayed unusual repetitive hand movements, continuously pressing her palms together in the midline and repetitively stroking her thumbs. [molecularcytogenetics.biomedcentral.com]

[…] ish r(7)(q10q11.23)(wcp , D7Z1 , D7S520 , ELN , LINK1 , D7S613 , D7S659/499-, D7S494-) de novo [50]/ 46, XX [50] [also confirmed by array CGH] expressive speech development, poor articulation, minor dysmorphic features, recurrent otitis media, and recurrent [chr7.org]

Arslan M, Yis U, Vurucu S, Tunca Y, Unay B, et al. (2012) Ring chromosome 21 in the differential diagnosis of waddling gait. Brain Dev 34: 792-795. [omicsonline.org]

kidney Absent/underdeveloped kidney [ more ] 0008678 Sandal gap Gap between 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes Wide [rarediseases.info.nih.gov]