Mucopolysaccharidosis
It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive[icd9data.com]
Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement.[ncbi.nlm.nih.gov]
The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov]
Pseudohypoparathyroidism
The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000.[en.wikipedia.org]
, prevention and management of obesity and short stature, management of ossifications and accurate genetic and prenatal counselling.[doi.org]
Types include: Type 1a (OMIM 103580) Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a[en.wikipedia.org]
Osteogenesis Imperfecta
Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery.[ncbi.nlm.nih.gov]
It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures.[patient.info]
Down Syndrome
Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%).[journals.lww.com]
[…] neck and generous nuchal skin General physical features in patients with Down syndrome may include the following: Shortened extremities Short, broad hands, with short fifth[emedicine.medscape.com]
Growth retardation was noted in only three patients, with only one of them exhibiting extreme short stature, defined as height below the 5th percentile based on normative[journals.lww.com]
Shwachman Syndrome
Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows.[ncbi.nlm.nih.gov]
Plain film Skeletal features: shortened extremities cup deformity of ribs Ultrasound Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation[radiopaedia.org]
Patient characteristics Growth failure resulted in an extremely short stature in some patients, but was never disproportionate of nature.[bloodjournal.org]
Thalassemia
Treatments for thalassemias depend on the type and severity of the disorder. People who are carriers or who have alpha or beta thalassemia trait have mild or no symptoms. They’ll likely need little or no treatment. Doctors use three standard treatments for moderate and severe forms of thalassemia. These[…][web.archive.org]
Pseudoachondroplasia
He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov]
Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized[abstracts.eurospe.org]
Height is normal at birth but then goes into the less than fifth percentile by age 2 Short extremities Misalignment of the lower extremities with bowing on one side and knock[hopkinsmedicine.org]
Mucopolysaccharidosis 1
Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX.[neurology.testcatalog.org]
Dysplasia (abnormal bone size and/or shape) and other skeletal irregularities Short and often claw-like hands, Progressive joint stiffness, and carpal tunnel syndrome can[wikidoc.org]
MPS VII is extremely rare, affecting approximately 1 in 1,500,000 individuals. MPS IX is a very rare disorder caused by a deficiency of the enzyme hyaluronidase.[neurology.testcatalog.org]
Achondroplasia
[…] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor[medlink.com]
The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the[medicinenet.com]
Achondroplasia is a disorder of bone formation, primarily affecting the long bones of the extremities and the base of the skull, resulting in characteristic features of short[medlink.com]
Hypochondroplasia
Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov]
Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar[ncbi.nlm.nih.gov]
RESULTS: The proband and his mother all presented disproportionate short stature, short, stubby extremities, unchanged interpedicular distances from L1-L5, and short iliac[ncbi.nlm.nih.gov]