Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [rarediseases.oscar.ncsu.edu]

Chondrodysplasia punctata syndrome with stippled epiphyses, mild facial anomalies, short stature, and ocular colobomata. Congenital heart disease and central nervous system anomalies are also reported. [ncbi.nlm.nih.gov]

stature and ocular colobomata. [orpha.net]

Spondyloepiphyseal dysplasia, Kimberley type Orphanet_93283 [Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.] [ebi.ac.uk]

Diseases related with Spasticity and Severe short stature In the following list you will find some of the most common rare diseases related to Spasticity and Severe short stature that can help you solving undiagnosed cases. [mendelian.co]

Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. [orpha.net]

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd Related symptoms: Intellectual disability Seizures Global developmental delay Microcephaly Muscular hypotonia SOURCES: ORPHANET UMLS More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY [mendelian.co]

Abstract Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early [pediatrics.aappublications.org]

Approximately 60% of affected males have mild-to-severe intellectual disability or developmental delay. [ncbi.nlm.nih.gov]

" (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. ‏ [books.google.com]

[…] by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. [mendelian.co]

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is an inherited disease that causes small physical size, certain characteristic bone problems, mental disability, and cataracts. [counsyl.com]

DEFINITIONS DISABILITY-RELATED DEFINITIONS 1. [docplayer.net]

The majority of individuals with the KANSL1-related intellectual disability syndrome function in the mild to moderate range of intellectual disability. [ncbi.nlm.nih.gov]

[…] to thrive Wide nasal bridge Intellectual disability, severe Frontal bossing Optic atrophy Downslanted palpebral fissures Muscular hypotonia Epicanthus Abnormality of the skeletal system Atrial septal defect Rigidity Muscle stiffness Dry skin Specific [mendelian.co]

Intrauterine growth restriction (IUGR), failure to thrive (FTT), and poor postnatal growth are common. [ncbi.nlm.nih.gov]

Congenital heart disease and central nervous system anomalies are also reported. [from SNOMEDCT_US ] Etiology Ultrasound Obstet Gynecol 1996 Nov;8(5):350-4. doi: 10.1046/j.1469-0705.1996.08050350.x. [ncbi.nlm.nih.gov]

CHROMOSOMAL ABERRATIONS More information HYPERTENSIVE HEART DISEASE HYPERTENSIVE HEART DISEASE Hypertensive heart disease (HHD) stems from the increased demands placed on the heart by hypertension pressure overload ventricular hypertrophy Most commonly [docplayer.net]

Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. [ghr.nlm.nih.gov]

Guidelines for prevention of thrombo-embolic events in valvular heart disease. Eur Heart J 1995;16:1320 –30. 32. Oakley CM. Anticoagulation in pregnancy. Br Heart J 1995;74:107–11. 33. [kundoc.com]

In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy and deep palmar creases. [orpha.net]

Low-set ears Melotia, Lowset ears Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. [rarediseases.oscar.ncsu.edu]

[…] neck (brachycephaly, short neck, flat face, frontal bossing, coloboma of the iris, cataract, nystagmus, optic disc anomaly, flattened small nose with anteverted nares, partial absence of the mandible, short columella, long philtrum, tented upper lip, low-set [accessanesthesiology.mhmedical.com]

[…] disability, severe Frontal bossing Optic atrophy Downslanted palpebral fissures Muscular hypotonia Epicanthus Abnormality of the skeletal system Atrial septal defect Rigidity Muscle stiffness Dry skin Specific learning disability Status epilepticus Low-set [mendelian.co]

These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. [ncbi.nlm.nih.gov]

Chondrodysplasia punctata (CDP) is a collective name for a heterogenous group of skeletal dysplasias. Calcific stippling of cartilage and peri-articular soft tissues is often a common feature. [radiopaedia.org]

[…] nermann-Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton producing short stature, asymmetric shortening of the limbs and scoliosis, as well as affecting the skin, hair and eyes. [medicbind.com]

Spondyloepimetaphyseal dysplasia, aggrecan type Orphanet_171866 [Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.] [ebi.ac.uk]

Short stature Decreased body height, Height less than 3rd percentile, Small stature, Stature below 3rd percentile [more] A height below that which is expected according to age and gender norms. [rarediseases.oscar.ncsu.edu]

Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]

The classic form of rhizomelic chondrodysplasia punctata (RCDP) a rare, autosomal recessive peroxisomal disorder is characterized by proximal shortening of the limbs, cataracts, distinct facial appearance, growth failure, psychomotor retardation and seizures [indianpediatrics.net]

Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 MedGen UID: 815784 • Concept ID: C3809454 • Disease or Syndrome Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive [ncbi.nlm.nih.gov]

Short nose Small nose, Hypoplastic nose, Shortened nose, Decreased length of nose, Nasal hypoplasia [more] Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal [rarediseases.oscar.ncsu.edu]

[…] hypoplasia/aplasia Increased bone mineral density Joint contracture of the hand Intestinal malrotation Talipes Cupped ear Arthrogryposis multiplex congenita Low-set, posteriorly rotated ears Telecanthus Oxycephaly Narrow mouth Patent ductus arteriosus Short [mendelian.co]

nose with broad tip. [ncbi.nlm.nih.gov]

On examination she was vigorous and had splayed sagittal sutures with large anterior and posterior fontanelles, flattened nasal bridge, and short nose, short but not webbed neck and a prominent thorax (Fig. 7). [tiptiktak.com]

Yet, the existing medical literature on arthrogryposis is sparse and often confusing. [books.google.com]

Global developmental delay Psychomotor developmental delay, Psychomotor retardation, Developmental delay, Lack of psychomotor development, Cognitive delay, Delayed intellectual development, Delayed milestones, Psychomotor development deficiency, Developmental [rarediseases.oscar.ncsu.edu]