Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder. [ncbi.nlm.nih.gov]

transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Ventriculomegaly 0002119 [rarediseases.info.nih.gov]

transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma Cone/cone-rod dystrophy Anteverted nares Low-set ears Downslanted palpebral [mendelian.co]

The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. [rarediseases.oscar.ncsu.edu]

teeth Distinctive facial features 2 ; joint limitations; hypothyroidism. [ncbi.nlm.nih.gov]

Note the distinctive facies of the two affected subjects with microcephaly, sparse eyebrows with unusual profile, upslanting and narrow palpebral fissures, strabismus, cup shaped ears, preauricular tags, and micrognathia. [jmg.bmj.com]

Ectodermal abnormalities Sparse scalp hair, thin skin, dry skin, and hyperkeratosis are noted in some infants. The appearance of the scalp hair improves with age. [ncbi.nlm.nih.gov]

[…] and thin fingers). [jmg.bmj.com]

Der Kaloustian Mcintosh Silver syndrome 0 *Synostosis *Developmental Disabilities *Muscle Hypotonia *Facies. Bowen syndrome 0 *Abnormalities, Multiple *Contracture *Glaucoma *Facies. [reference.md]

weakness / flaccidity - Myopia - Narrow face - Nystagmus - Philtrum flat / large / featureless / absent cupidon bows - Preauricular / branchial tags / appendages - Short philtrum - Strabismus / squint - Telecanthus / canthal dystopy - Thin / retracted [csbg.cnb.csic.es]

Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. [rarediseases.oscar.ncsu.edu]

hand / arachnodactyly - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Upslanted [csbg.cnb.csic.es]

Kaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. [ncbi.nlm.nih.gov]

face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper & lower eyelids), highly arched palates & preauricular skin tags. severely inflicted people show very obvious facial features of a mentally retarded person [signssymptoms.org]

This rare genetic medical condition is characterized by some abnormal looking facial features including small head, narrow face, eye anomalies, small mandible, upslanting palpebral fissure (the distance between the upper and lower eyelids), highly arched [medigest.uk]

Anteverted nares Upturned nasal tip, Upturned nostrils, Upturned nares, Anteverted nose, Upturned nose, Nostrils anteverted [more] Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the [rarediseases.oscar.ncsu.edu]

X-linked Ohdo syndrome (OMIM 300895 ) MED12 XL ID; constipation; hypotonia Distinctive facial features 3 Blepharophimosis w/facial & genital anomalies & intellectual disability, Verloes type (OMIM 604314 ) See footnote 4 Severe microcephaly; cleft palate Hypsarrhythmia [ncbi.nlm.nih.gov]