puberty (usually female) Clinical Features May be asymptomatic and present incidentally or with endocrine dysfunction Almost any bone may be affected Most common Femur, tibia, humerus, rib or facial bone May pain & limp if neck of femur involved Polyostotic [flinders.edu.au]

• Constipation. • Osteoporosis. [skin-diseases-and-skin-care.imedpub.com]

thorax with short ribs leading to respiratory distress. [medcaretips.com]

Dwarf: Refers to a pathological diminution in stature and may be either Proportionate (midget) eg, Hurler's disease, hypophosphatasia, hypophosphataemia and severe varieties of osteogenesis imperfecta Disproportionate (short limb or short trunk) eg, achondroplasia [flinders.edu.au]

(B) Patients V:2 (panels i, ii), V:3 (panels iii, iv) and V:7 (panels v, vi) show hypotrichosis with brittle hair of the scalp and dystrophic, slightly spoon-shaped nails with distal onycholysis and mild micronychia. [commons.wikimedia.org]

Very little hair -- on both head and face -- and dry or brittle hair. Continued Diagnosis Usually, your doctor can tell you have AEC based on your symptoms, health history, and a physical exam. [webmd.com]

Hair Syndrome Scalp-Ear-Nipple Syndrome Sclerosteosis 1 Sclerosteosis 2 Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis Simpson-Golabi-Behmel Syndrome Skin Fragility-Woolly Hair Syndrome Spondyloepimetaphyseal Dysplasia With Multiple [familydiagnosis.com]

At present we can identify dry scaly skin; fine sparse and brittle hair, eyebrows, and eyelashes, hypodontia, nail dystrophy, hypohidrosis, and athelia, with deficient hearing and vision. [omicsonline.org]

Clinical features of dyskeratosis congenita The classical mucocutaneous triad of dyskeratosis congenita was originally defined by the following three mucocutaneous features: Nail dystrophy Longitudinal ridging Loss of nails Koilonychia (thin spoon-shaped [dermnetnz.org]

L60.3 Nail dystrophy 2016 2017 2018 2019 Billable/Specific Code congenital Q84.6 ICD-10-CM Diagnosis Code Q84.6 Other congenital malformations of nails 2016 2017 2018 2019 Billable/Specific Code POA Exempt Applicable To Congenital clubnail Congenital koilonychia [icd10data.com]

Platynychia of right index and koilonychia of left index Patella small. Genu valgum both sides 111-10 13 Female Thumb, index, middle and ring finger nails on both sides effected Patella small 111-11 11 Male Thumb nails effected. [skin-diseases-and-skin-care.imedpub.com]

[…] if present may require osteotomy Pyknodysostosis Inheritance Autosomal recessive Clinically Short stature Skull dysplasia with failed closure of sutures, hyoplastic jaw and Wormian bones Hypo / dysplastic clavicles Acro-osteolysis terminal phalanges Koilonychia [flinders.edu.au]

Previous studies have identified mutations in the RSPO4 and LMX1B components of the Wnt pathway in patients with the hypoplastic nail disorders anonychia and nail-patella syndrome, respectively. [ncbi.nlm.nih.gov]

Curly hair, ankyloblepharon and nail dysplasia (CHAND) syndrome: An autosomal recessive disorder characterised by ankyloblepharon, ectodermal dysplasia, curly hair and hypoplastic nails, with absence of cleft lip or palate. [eyewiki.aao.org]

[…] effects, tremors and ataxia, mental confusion, hypothermia and hypotension; more common in chronic alcoholics Wolff-Parkinson-White syndrome congenital atrioventricular interconnection causing tachycardia and characteristic electrocardiogram pattern yellow-nail [medical-dictionary.thefreedictionary.com]

The present results therefore suggest that FZD6 plays a pivotal role in the growth and guidance of the nail plate in humans by acting as a molecular switch between different Wnt pathways. [ncbi.nlm.nih.gov]

You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use. Provenance [commons.wikimedia.org]

The results suggest this family to have either a non-coding mutation in the KRTHB5 gene, or a mutation in a yet unknown gene within the linked region on chromosome 12. [jle.com]

This seems to a first reported case of alopecia universalis with twenty nail dystrophy strongly suggesting an autosomal recessive mode of inheritance. [ijtrichology.com]

Studies suggest that this protein helps guide the formation of hair follicles and growth of fingernails and toenails. The FOXN1 protein also plays a critical role in the formation of thymus where T immune cells mature and become functional. [ivami.com]