SHORT Syndrome
dentition.[ncbi.nlm.nih.gov]
[…] facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed[uniprot.org]
Delayed dentition, hypodontia, enamel hypoplasia, malocclusion and multiple dental caries are frequently reported. Ophthalmic anomalies (e.g.[orpha.net]
Down Syndrome
We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and[…][ncbi.nlm.nih.gov]
Familial Hypophosphatemia
Delayed dentition; dental abscesses; deafness; Chiari malformation; extraskeletal calcification of the tendons, ligaments, and joint capsules; and craniosynostosis are occasionally[emedicine.medscape.com]
dentition, dental abscesses, and early tooth decay.[consultant360.com]
Nevertheless, no gender differences in disease severity were detected in the largest reported series of patients with XLH rickets. 15 Affected patients grow slowly and have delayed[consultant360.com]
Facial Hemiatrophy
- A dictionary of medical eponyms Related people Caleb Hillier Parry Moritz Heinrich Romberg A rare disorder characterized by progressive atrophy of some or all tissues on one side of the face, occasionally extending to other parts of the body. The process may be bilateral in 5% to 10% of cases. Tissues involved[…][whonamedit.com]
Vitamin D Deficiency
dentition, delayed anterior fontanelle closure Investigations Infants Infants: Exclusively breastfed infants with at least one other risk factor without symptoms/signs -[rch.org.au]
Previous vitamin D levels, previous/current treatments - to reduce risk of over-dosing Family understanding of Vitamin D Exam Signs of Rickets (deformity in growing bones) Delayed[rch.org.au]
Camurati-Engelmann Syndrome
Rare signs include sensory loss, slurred speech, dysphagia, cerebellar ataxia, anorexia, decreased subcutaneous tissue, hyperhidrosis of the extremities, delayed dentition[orpha.net]
Other, rare features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, delayed teething (dentition[ghr.nlm.nih.gov]
, extensive dental caries, delayed puberty, hypogonadism and bladder incontinence.[orpha.net]
Growth Failure
In addition to postnatal growth failure, patients with GHR defects have infantile facies, cephalofacial disproportion, truncal adiposity, bluish sclerae and delayed dentition[oncohemakey.com]
Short stature Poor growth velocity Delayed bone maturation Immature facial appearance with a small midface and frontal bossing (prominence) Increased subcutaneous fat Delayed[pharmaceutical-journal.com]
Defects of IGF1 are also characterized by microcephaly, developmental delay and, in some cases, sensorineural deafness.[oncohemakey.com]
Bloch Sulzberger Syndrome
Extracutaneous findings:Dental anomalies: Delayed dentition, pegged or conical teeth, anodontia or hypodontiaHair anomalies: cicatricial alopecia, sparse hair, woolly hair.Neurologic[dailyrounds.org]
Delayed dentition, missing, and/or malformed cone shaped teeth occur in most cases.[orpha.net]
[…] symptoms: lethargy, poor feeding, seizures, and developmental delay (often severe and early in life)Ocular anomalies: proliferative retinopathy, peripheral avascularity,[dailyrounds.org]
Kallmann Syndrome Type 4
Other names for 4H syndrome: Ataxia, Hypodontia and Hypomyelination (AHH) Ataxia, delayed dentition and Hypomyelination (ADD) Pol III – related Leukodystrophy[leukodystrophyresourceresearch.org]
Other names for 4H syndrome Ataxia, hypodontia and hypomyelination (AHH) Ataxia, delayed dentition and hypomyelination (ADDH)[ulf.org]
4H syndrome is diagnosed on the basis of the clinical symptoms, especially ataxia and delayed dentition or Hypodontia, in combination with the results of an MRI also which[leukodystrophyresourceresearch.org]
Cleidocranial Dysplasia
dentition No mental retardation Imaging Findings Skull Wormian bones Intersutural bones, especially seen in the lambdoid and posterior sagittal sutures Large head Thinness[learningradiology.com]
delayed or failing eruption of permanents dentition.[omicsonline.org]
[…] the metacarpals, and dental anomalies including delayed eruption of permanent dentition and multiple supernumerary teeth.[ncbi.nlm.nih.gov]