Examples of other findings reported in isolated or only a few individuals include fifth finger clinodactyly, Chiari I malformation, hypotonia, cataract, nephrolithiasis, urethral meatal stenosis, pulmonic stenosis and mitral valve prolapse, paroxysmal [ncbi.nlm.nih.gov]

Fig 2.3.2: NS growth curve for case 2 (KRAS mutation); green arrow marks start of GH therapy (graph adapted from Hall, 2007) Diagnosed with heart defect at 6 Mo (atrial septal defect later closed; anterior mitral valve prolapse, mild mitral insufficiency [healthdocbox.com]

CASE REPORT: We present a 10 months child, without a personal interest history, consulting by hypotonic extremities, cafe-au-lait spots and mild psychomotor difficult. Mother's sister and grandfather have some cafe-au-lait spots. [ncbi.nlm.nih.gov]

On assessment he was noted to have multiple cafe-au-lait spots 5 mm in diameter. Cafe-au-lait spots were also noted on his mother and brother. The rest of his clinical examination was unremarkable. [pediatricneurology.conferenceseries.com]

Wikipedia : 74 Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was... more... [malacards.org]

Consider the possibility of Legius syndrome, which can be confirmed by molecular genetic analysis, in patients with six or more café au lait macules and axillary freckling but none of the other classic features of NF1, urged Dr. [mdedge.com]

Other features include axillary freckling, macrocephaly, Noonan-like facies, lipomas, learning disabilities and attention deficit-hyperactivity. [medical-dictionary.thefreedictionary.com]

NF6 was ruled out by the presence of axillary freckling. NF-6 is characterized by only multiple CALMs. [ijpd.in]

Abstract Neurofibromatosis type 1 (NF1) is an hereditary disorder characterized by abnormal proliferation of multiple tissues of neural crest origin, and presents mainly with multiple café-au-lait macules, axillary freckling and neurofibromas. [ncbi.nlm.nih.gov]

Other less common manifestations include short stature, macrocephaly, Noonan-like facies, pectus excavatum/carinatum, lipomas, hypopigmented macules, vascular lesions, learning disabilities, attention deficit/hyperactivity disorder (ADHD), and developmental [orpha.net]

[…] individuals include fifth finger clinodactyly, Chiari I malformation, hypotonia, cataract, nephrolithiasis, urethral meatal stenosis, pulmonic stenosis and mitral valve prolapse, paroxysmal atrial tachycardia, tubular colonic adenoma, progressive dystonia, xanthelasmas [ncbi.nlm.nih.gov]

The patient had shown vocal and motor tics since the age of 7, without any changes in behavior or scholastic performance and without features of an associated obsessive-compulsive disorder or attention deficit hyperactivity disorder. [nature.com]

Other features shared between the two conditions include short stature, intellectual disability, lax joints, and head/neck features such as a highly arched palate, a short neck, a large forehead, and low-set ears. [forgottendiseases.org]

short neck, cardiac abnormalities [50%-80%, pulmonary valve stenosis (20%-50%), hypertrophic cardiomyopathy (HCM) (20%-30%) and other structural defects], developmental abnormalities, a variable degree of intellectual disability (25%), thoracic abnormalities [admerahealth.com]

neck Pectus deformity Cryptorchidism NA NA NA NA NA Skin changesKeratosis Nevi/lentigines Caf-au-lait spots Short stature2 SD 2 SD 1 SD 1 SD Croonen et al. [docslide.com.br]

Ptosis and short neck, features frequently associated with 18p- [Turleau 2008], were attributed by Brenk et al. to the proximal half of 18p. These features were absent in our patient, in whom the proximal 5,1 Mb of 18p was not deleted. [healthdocbox.com]

Of the six individuals with developmental abnormalities described by Messiaen et al [2009], all had speech and/or language delays as the primary or only delay. [ncbi.nlm.nih.gov]

Examples of other findings reported in isolated or only a few individuals include fifth finger clinodactyly, Chiari I malformation, hypotonia, cataract, nephrolithiasis, urethral meatal stenosis, pulmonic stenosis and mitral valve prolapse, paroxysmal [ncbi.nlm.nih.gov]