Short stature, and Dental crowding

Diseases related with Short stature and Dental crowding

In the following list you will find some of the most common rare diseases related to Short stature and Dental crowding that can help you solving undiagnosed cases.


Top matches:

Medium match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Medium match POLYVALVULAR HEART DISEASE SYNDROME


Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION


Hereditary sensory and autonomic neuropathy due to TECPR2 mutation is a rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION Is also known as spg49|autosomal recessive spastic paraplegia type 49|hsan due to tecpr2 mutation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY DUE TO TECPR2 MUTATION

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Other less relevant matches:

Medium match ALAZAMI-YUAN SYNDROME; ALYUS


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Medium match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Medium match MENTAL RETARDATION, X-LINKED 21; MRX21


This form of nonsyndromic X-linked mental retardation is characterized by a spectrum of cognitive neurologic impairments or disabilities ranging from moderate mental retardation to high-functioning autism. Males are typically severely affected, but some carrier females may manifest milder deficits (summary by Piton et al., 2008).

MENTAL RETARDATION, X-LINKED 21; MRX21 Is also known as mental retardation, x-linked 34|mrx34

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 21; MRX21

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Medium match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C


Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

Medium match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Medium match NESTOR-GUILLERMO PROGERIA SYNDROME


Nestor-Guillermo progeria syndrome is a rare, genetic, progeroid syndrome characterized by a prematurely aged appearance associated with severe osteolysis (notably on mandible, clavicles, ribs, distal phalanges, and long bones), osteoporosis, generalized lipoatrophy and absence of cardiovascular, atherosclerotic and metabolic complications, presenting a relatively long survival. Additional characteristics include growth retardation, joint stiffness (mainly of fingers, hands, knees, and elbows), wide cranial sutures, dysmorphic facial features (prominent eyes, convex nasal ridge, malocclusion, dental crowding, thin lip vermillion, microretrognathia) and persistent eyebrows, eyelashes and scalp hair.

NESTOR-GUILLERMO PROGERIA SYNDROME Is also known as progeria syndrome, childhood-onset, with osteolysis|ngps|pscoo

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NESTOR-GUILLERMO PROGERIA SYNDROME

Top 5 symptoms//phenotypes associated to Short stature and Dental crowding

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Long philtrum Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Short stature and Dental crowding. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Scoliosis Convex nasal ridge Mitral valve prolapse Global developmental delay Broad forehead Low-set ears Tricuspid regurgitation Broad nasal tip Abnormality of the skeletal system Abnormal facial shape Delayed speech and language development Intellectual disability, moderate Thin upper lip vermilion Cryptorchidism

Rare Symptoms - Less than 30% cases


Tachycardia Joint laxity Dyspnea Upslanted palpebral fissure Pectus excavatum Atrial septal defect Overgrowth Growth delay Midface retrusion Proptosis Hyperactivity Narrow mouth Small hand Synophrys Underdeveloped nasal alae Reduced subcutaneous adipose tissue Narrow naris Flexion contracture Triangular face Sparse eyelashes Clinodactyly Abnormality of the dentition Frontal bossing Downslanted palpebral fissures Failure to thrive Hernia Limb undergrowth Short nose Macrocephaly Right bundle branch block Bundle branch block Low anterior hairline Disproportionate tall stature Aortic regurgitation Mitral regurgitation Strabismus Dental malocclusion Kyphoscoliosis Delayed skeletal maturation Microcephaly Coarse facial features Seizures Abnormal heart valve morphology Brachycephaly Intellectual disability, mild Prominent nose Long face Pulmonic stenosis Short philtrum Arteriosclerosis Hip dysplasia Nystagmus Talipes equinovarus Delayed closure of the anterior fontanelle Pes planus Oligodontia Decreased body weight Pointed chin 2-4 toe cutaneous syndactyly Knee flexion contracture Lipoatrophy Cutis laxa Laryngomalacia Bilateral cryptorchidism Wide cranial sutures Persistent pupillary membrane 4-5 finger syndactyly Basal ganglia calcification Progressive clavicular acroosteolysis Fine hair Sparse scalp hair Large fontanelles Abnormality of dental enamel Abnormality of dental morphology Hyperostosis Long nose Spotty hyperpigmentation Narrow nose Fifth finger distal phalanx clinodactyly Osteolytic defects of the distal phalanges of the hand Spinal cord compression Mild global developmental delay Large earlobe Sinus tachycardia Hypoplasia of teeth Cutaneous syndactyly of toes Cranial hyperostosis Broad long bones Macrodontia of permanent maxillary central incisor Atherosclerosis Hand clenching Entropion Mesomelic short stature Otitis media with effusion Skeletal dysplasia Umbilical hernia Conductive hearing impairment Cleft lip Camptodactyly Narrow nasal tip Wide mouth Short distal phalanx of finger Triangular mouth Micropenis Generalized osteosclerosis Depressed nasal tip Otitis media Thickened calvaria Mesomelia Broad thumb Short phalanx of finger Gingival overgrowth Increased bone mineral density Hypertension Severe short stature Broad columella Hypertriglyceridemia Pneumothorax Chronic otitis media Osteolysis Hypoplasia of the musculature Wide nasal base Sparse and thin eyebrow Insulin resistance Biventricular hypertrophy Hypoplastic heart Pulmonary arterial hypertension Malar flattening Abnormality of the ribs Hearing impairment Joint stiffness Sensorineural hearing impairment Diabetes mellitus Depressed nasal bridge Brachydactyly Osteoporosis Wide nasal bridge Anteverted nares High forehead Thick vermilion border Short palpebral fissure Neonatal hypotonia Full cheeks Round face Spastic gait Aspiration Mild short stature Broad neck Hypomimic face Central apnea Feeding difficulties Prominent nasal bridge Paraplegia Narrow chest Poor speech Thick eyebrow Hirsutism Highly arched eyebrow Single transverse palmar crease Wide intermamillary distance Long eyelashes Broad hallux Short columella Dysmetria Spastic paraplegia Curly eyelashes Abnormality of the skin Motor delay Prominent forehead Small for gestational age Thick lower lip vermilion Long foot Ptosis Arrhythmia Abnormality of the pinna Dolichocephaly Joint hyperflexibility Aortic valve stenosis Respiratory tract infection Dysarthria Short neck Hypoplasia of the corpus callosum Cerebellar atrophy Cerebral atrophy Areflexia Recurrent respiratory infections Gait ataxia Gastroesophageal reflux Apnea Unilateral cryptorchidism Pain Hypoplasia of the maxilla Cataract Everted lower lip vermilion Open mouth Tented upper lip vermilion Prominent supraorbital ridges Impulsivity Broad palm Macroorchidism Uplifted earlobe Maxillary lateral incisor microdontia Epicanthus Joint hypermobility Myopia Syndactyly Microphthalmia Deeply set eye Telecanthus Toe syndactyly Thin vermilion border Short foot Delayed eruption of teeth Microcornea Short palm Abnormality of skin pigmentation Cardiomyopathy Endocarditis Congestive heart failure Posteriorly rotated ears Hypertrophic cardiomyopathy High, narrow palate Chest pain Abnormality of the cardiovascular system Atrial fibrillation Striae distensae Thromboembolism Supraventricular tachycardia Tricuspid valve prolapse Autistic behavior Asthenia Mastoiditis Bacterial endocarditis Quadricuspid aortic valve Reversed usual vertebral column curves Obesity Depressivity Autism Mandibular prognathia Macrotia Abnormality of the forearm



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