We expand the phenotype to include dolichocephaly, pectus excavatum, hip dysplasia, pes planus, myopia, lens opacities, and an absence of spoken language but not of communication through sign. [ncbi.nlm.nih.gov]

Syndrome With Uncommon Clinical Manifestations Confirmed on Genetic Testing Author: Wu Jian-Bing, MD Li Cheng-Rang, MD Ma Yi-Ping, MD Sheng Nan, MS Li Hui, MD Lin Lin, MD Bloom syndrome, a rare autosomal-recessive disorder, characteristically presents with photosensitivity [mdedge.com]

[…] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome) FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis [en.wikipedia.org]

iridis Different colored eyes 0001100 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of [rarediseases.info.nih.gov]

Waardenburg syndrome: A genetic disorder that causes deafness, white forelock (a frontal white blaze of hair), a difference of color between the iris of one eye and the other (heterochromia iridis), white eye lashes, and wide-set inner corners of the [medicinenet.com]

Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. [arl4.library.sk]

Fatal within the first decade of life Waardenburg’s sydnrome (types 1-4): white patches of skin, congenital deafness, heterochromia iridis, dystopia canthorum. [dermatologyadvisor.com]