[…] hypotrichosis 9 hypotrichosis and recurrent skin vesicles hypotrichosis of eyelid Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate Hypotrichosis-Lymphedema-Telangiectasia Syndrome Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar [rgd.mcw.edu]

Parkinsonism, Juvenile, Autosomal Recessive Paroxysmal Extreme Pain Disorder Partial Atrioventricular Septal Defect and Heterotaxy Syndrome Peeling Skin Syndrome Pelizaeus-Merzbacher Disease, Mild Pendred Syndrome Periodic Fever, Autosomal Dominant Periodontitis [sequencing.com]

[…] dyskinesia ( MR1) Partington syndrome ( ARX) PCWH syndrome ( SOX10) Peeling skin syndrome, acral type ( TGM5) Pelger-Huet anomaly ( LBR) Pelizaeus-Merzbacher disease ( PLP1) Pendred syndrome ( SLC26A4) Pentosuria ( DCXR) Periodic fever, familial ( TNFRSF1A) Periodontitis [de.praenatal-medizin.de]

2 Ehlers-Danlos Syndrome, Autosomal Recessive, Cardiac Valvular Form 4 Ehlers-Danlos Syndrome, Hydroxylysine-Deficient 4 Ehlers-Danlos Syndrome, Musculocontractural Type 3 Ehlers-Danlos Syndrome, Musculocontractural Type 2 1 Ehlers-Danlos Syndrome, Periodontal [preventiongenetics.com]

Periodontitis, juvenile, 170650 (3) CTSD G:116840 Bell neurological Ceroid lipofuscinosis, neuronal, 10, 610127 (3) CTSE G:116890. . CTSF G:603539. . CTSG G:116830. . CTSH G:116820. . [usegalaxy.org]

[…] achondrogenesis achondroplasia acrocapitofemoral dysplasia acrodysostosis Acrodysplasia Scoliosis Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia acromesomelic dysplasia Acropectorovertebral Dysplasia Akaba Hayasaka Syndrome alopecia [rgd.mcw.edu]

[…] patchy) scalp hypotrichosis from 6 months of age or earlier with no improvement, AND Patient older than three years Exclusion Criteria Patchy hypotrichosis Patchy or episodic regrowth Syndromic congenital hypotrichosis including ectodermal dysplasias, alopecia [eastgenomics.org.uk]

[…] the following Bone, Skin & Immune diseases that are of genetic origin: Achondrogenesis Achondroplasia Acne inversa familial Acrodermatitis enteropathica Acrodysostosis Acrofacial dysostosis, Nager type Adams-Oliver syndrome Albinism, oculocutaneous Alopecia [qlinics.com]

(Dorland, 27th ed) less than normal amt of hair; do not confuse with HYPERTRICHOSIS, localized or generalized excess hair Examples Alopecia Other names Hypotrichoses Substance CAS Registry & name Categories Source Juvenile macular degeneration and hypotrichosis [reference.md]

Symptoms via clinical synopsis from OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head And Neck Teeth: normal teeth Chest Ribs Sternum Clavicles And Scapulae: medial [malacards.org]

Showing of 18 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Coxa vara 0002812 Decreased hip abduction 0003184 Delayed epiphyseal ossification 0002663 Flared femoral metaphysis 0002834 Flared [rarediseases.info.nih.gov]

Other skeletal signs include flattened vertebrae ( platyspondyly ), severe protrusion of the breastbone ( pectus carinatum ), a hip joint deformity in which the upper leg bones turn inward ( coxa vara ), and a foot deformity known as clubfoot. [en.wikipedia.org]

Radiological examination revealed platyspondyly, with increased intervertebral disk spaces, short bowed long bones with defective epiphyseal mineralization, cupping of the metaphyses, flat acetabular roof, coxa vara and short ribs, with a narrow chest [jiaomr.in]

In the first group the changes are severe with absent ossification of the femoral neck and coxa vara. In the second group the changes of the femoral neck are moderate and in the third mild metaphyseal irregularities are only visible. [blueprintgenetics.com]

valgum Limitation of joint mobility Macroorchidism Strabismus Hypotelorism Abnormality of the abdominal wall Abnormality of the thyroid gland Prematurely aged appearance Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Fasting [mendelian.co]

The patients of SMS have a short trunk, dwarfism, a striking barrel-shaped chest, sternal protrusion, kyphoscoliosis, and various distal deformities, including genu valgum or varum. [jiaomr.in]

Joint abnormalities may lead to the development of hip deformity in which the thigh bone is angled toward the center of the body (coxa vara) and/or knee deformities, including bow legs (genu varum) and ‘knock knees’ (genu valgum). [rarediseases.org]

The shoulders may appear drooped and demonstrate an increased range of motion and genu valgum and brachydactyly may be seen. [radiologykey.com]

Symptoms via clinical synopsis from OMIM: 57 Skin Nails Hair Hair: hypotrichosis Skeletal Pelvis: coxa vara flared iliac wings short femoral neck limited hip abduction Head And Neck Teeth: normal teeth Chest Ribs Sternum Clavicles And Scapulae: medial [malacards.org]

hip abduction and mild genu varum. [rarediseases.info.nih.gov]