Hallermann-Streiff Syndrome
short stature, and dental anomalies.[ncbi.nlm.nih.gov]
short stature.[orpha.net]
Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature[ncbi.nlm.nih.gov]
Kenny-Caffey Syndrome Type 1
OMIM : 57 Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of[malacards.org]
short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ; Thin ribs Associated Genes[mousephenotype.org]
Delayed closure of the anterior fontanelle ; Delayed skeletal maturation ; Hypertelorism ; Hypocalcemia ; Hypomagnesemia ; Intrauterine growth retardation ; Long clavicles ; Proportionate[mousephenotype.org]
Seckel Syndrome
A homozygous nonsense mutation was identified in CEP63 in a consanguineous family of Pakistani descent with three members with primary microcephaly and proportionate short[dnatesting.uchicago.edu]
Characteristics of Seckel syndrome include severe proportionally short stature with severe microcephaly (mean postnatal growth retardation is -7SD with a range from -5 to[dnatesting.uchicago.edu]
Hennekam, R.; Allanson, J.; and Krantz, I. (2011) "Proportionate short stature syndromes." Gorlin's Syndromes of the Head and Neck.[rarediseases.about.com]
Marchesani-Weill Syndrome
., microspherophakia, ECTOPIA LENTIS; GLAUCOMA), and proportionate short stature. Cardiovascular anomalies are occasionally seen.[profiles.umassmed.edu]
Microcephalic Osteodysplastic Primordial Dwarfism Type II
short stature, and pronounced microcephaly.[ncbi.nlm.nih.gov]
It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly.[rgd.mcw.edu]
[…] dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate[ncbi.nlm.nih.gov]
Familial Short Stature
Proportionate short stature (PSS) is when the person is small, but all the parts are in the usual proportions.[medicalnewstoday.com]
They are proportionately short statured.[hgfound.org]
On the other hand, most genetic skeletal dysplasias are known for short stature that may be proportionate or disproportionate.[en.wikipedia.org]
3M Syndrome Type 1
Affected individuals typically have proportionately short stature, normal head circumference, typical facial features and limb length asymmetry that may result from hemihypotrophy[ncbi.nlm.nih.gov]
Affected individuals typically have proportionately short stature, normal head circumference, typical facial features, and limb-length asymmetry that may result from hemihypotrophy[nature.com]
Laron Syndrome with Immunodeficiency
The child with proportionate short stature should be screened for organic, systemic and endocrine disorders.[karger.com]
GHI is characterized by severe but proportionate short stature as a result of growth failure that begins at birth.[rarediseases.org]
short stature External genital hypoplasia Keratitis Short long bone Lymphopenia Chronic diarrhea Abnormal lung morphology Wide mouth Thick eyebrow Pneumonia Adducted thumb[mendelian.co]
Growth Failure
Because of persisting, proportionate short stature at age 3.6 years, serum IGF-I was measured, ranging from 8–17 ng/mL (reference range, 40–100 ng/mL).[academic.oup.com]
The baby is born smaller in weight and length than normal, although proportionate to his/her short stature.[stanfordchildrens.org]
Family history was negative for short stature, endocrine or autoimmune conditions.[ncbi.nlm.nih.gov]
SHOX-Related Short Stature
Proportionate short stature People with proportionate short stature (PSS) grow very slowly and have a general lack of growth throughout the body.[nhsdirect.wales.nhs.uk]
There are 2 main types of restricted growth: proportionate short stature (PSS) – a general lack of growth in the body, arms and legs disproportionate short stature (DSS) –[nhs.uk]
[…] imperfecta (although they may have proportionate short stature if bone fragility leads to generalized fractures), and spinal irradiation.[cmecorner.com]