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
  • Pica
  • Scoliosis


SOURCES: UMLS MONDO MESH OMIM

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

More info about POLYVALVULAR HEART DISEASE SYNDROME

Medium match SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49

SPG49 is an autosomal recessive complicated form of spastic paraplegia, a neurodegenerative disorder of the corticospinal tracts. It is characterized by delayed psychomotor development, mental retardation, and onset of spastic paraplegia in the first decade. Affected individuals also have dysmorphic features, thin corpus callosum on brain imaging, and episodes of central apnea, which may be fatal (summary by Oz-Levi et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49 Is also known as ;spg49

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: MONDO DOID ORPHANET OMIM UMLS

More info about SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE; SPG49

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Other less relevant matches:

Medium match ALAZAMI-YUAN SYNDROME; ALYUS

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Medium match TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3

TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3 Is also known as sugio-kajii syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Microcephaly


SOURCES: MONDO UMLS GARD OMIM

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE III; TRPS3

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:

  • Autosomal dominant inheritance
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: MONDO OMIM DOID UMLS

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Medium match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

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

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Pica
  • Micrognathia


SOURCES: GARD OMIM UMLS MESH MONDO

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:

  • Autosomal recessive inheritance
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM

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

Medium match MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB Is also known as lipodystrophy, type b, associated with mandibuloacral dysplasia;

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Growth delay
  • Micrognathia
  • Flexion contracture


SOURCES: UMLS OMIM MESH MONDO GARD ORPHANET

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY; MADB

Medium match NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS

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

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Pica
  • Scoliosis
  • Growth delay


SOURCES: GARD UMLS OMIM MONDO ORPHANET

More info about NESTOR-GUILLERMO PROGERIA SYNDROME; NGPS

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

Symptoms // Phenotype % cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Convex nasal ridge 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


Scoliosis Pica Generalized hypotonia High palate Abnormality of the skeletal system Global developmental delay Abnormality of the dentition Delayed skeletal maturation Microcephaly Low-set ears Proptosis Short phalanx of finger Underdeveloped nasal alae Flexion contracture Thin upper lip vermilion Narrow mouth Delayed speech and language development Cryptorchidism Hypertelorism Tricuspid regurgitation

Rare Symptoms - Less than 30% cases


Brachydactyly Autosomal dominant inheritance Sparse hair Large fontanelles Osteolysis Joint stiffness Short foot Short nose Short finger Short distal phalanx of finger Sparse eyelashes Triangular face Hypoplasia of teeth Failure to thrive Narrow naris Overgrowth Dental malocclusion Clinodactyly Growth delay Hernia Midface retrusion Low anterior hairline Frontal bossing Reduced subcutaneous adipose tissue Downslanted palpebral fissures Bundle branch block Right bundle branch block Abnormal facial shape Insulin resistance Brachycephaly Mitral valve prolapse Motor delay Broad nasal tip Osteolytic defects of the distal phalanges of the hand Progressive clavicular acroosteolysis Kyphoscoliosis Ptosis Prominent nose Sparse and thin eyebrow Knee flexion contracture Abnormality of hair texture Decreased body weight Ventricular hypertrophy Pointed chin Atherosclerosis Hip dysplasia Aortic regurgitation Cutis laxa Mitral regurgitation Pes planus Laryngomalacia Pulmonary arterial hypertension Hypertriglyceridemia Abnormality of the ribs Tachycardia Bilateral cryptorchidism Dyspnea Diabetes mellitus Disproportionate tall stature Joint laxity Lipoatrophy Inguinal hernia Cranial hyperostosis Abnormality of dental morphology Hyperostosis Long nose Spotty hyperpigmentation Basal ganglia calcification Narrow nose Spinal cord compression Large earlobe Mild global developmental delay Sinus tachycardia Cutaneous syndactyly of toes Broad long bones Atrial septal defect Wide cranial sutures Persistent pupillary membrane Arteriosclerosis Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Nystagmus Delayed closure of the anterior fontanelle Talipes equinovarus Malar flattening Osteoporosis Hypoplasia of the musculature Hypertension Hyperglycemia Wormian bones Acanthosis nigricans Calcinosis Dermal atrophy Hyperlipidemia Hyperinsulinemia Lipodystrophy Brittle hair Bird-like facies Short chin Loss of subcutaneous adipose tissue in limbs Generalized lipodystrophy Aplasia/Hypoplasia of the clavicles Poor wound healing Glucose intolerance Delayed cranial suture closure Prematurely aged appearance Short clavicles Premature loss of teeth Progeroid facial appearance Narrow nasal ridge Insulin-resistant diabetes mellitus Skin nodule Abnormality of the neck Mottled pigmentation Hyperpigmentation of the skin Entropion Loss of truncal subcutaneous adipose tissue Wide nasal base Osteolytic defects of the phalanges of the hand Pneumothorax Hand clenching Broad columella Biventricular hypertrophy Poroma Hypoplastic heart Heterogeneous Alopecia Decreased adipose tissue around neck Retrognathia Abnormality of the hair Abnormality of the fingertips Prominent superficial blood vessels Postnatal growth retardation Acroosteolysis of distal phalanges (feet) Delayed puberty Nail dystrophy Premature birth Loss of facial adipose tissue Nail dysplasia Thin skin Epidermal acanthosis Abnormality of dental enamel Oligodontia Fine hair Central apnea Gastroesophageal reflux Respiratory tract infection Apnea Spastic paraplegia Dysmetria Paraplegia Round face Full cheeks Spastic gait Aspiration Broad neck Hypomimic face Strabismus Recurrent respiratory infections Feeding difficulties Hyperactivity Neonatal hypotonia Prominent nasal bridge Synophrys Narrow chest Thick eyebrow Single transverse palmar crease Highly arched eyebrow Hirsutism Poor speech Wide intermamillary distance Gait ataxia Areflexia Broad hallux Broad forehead Tics Intellectual disability, mild Prominent forehead Coarse facial features Intellectual disability, moderate Small for gestational age Thick lower lip vermilion X-linked dominant inheritance Long foot Arrhythmia Abnormality of the pinna Short philtrum Dolichocephaly Cerebral atrophy Joint hyperflexibility Pulmonic stenosis Long face Abnormality of the skin Aortic valve stenosis Abnormal heart valve morphology Sudden death Seizures Dysarthria Short neck Hypoplasia of the corpus callosum Cerebellar atrophy Long eyelashes Short columella Sparse scalp hair Otitis media with effusion Cleft lip Limb undergrowth Otitis media Broad thumb Gingival overgrowth Increased bone mineral density Chronic otitis media Mesomelia Thickened calvaria Depressed nasal tip Generalized osteosclerosis Triangular mouth Cataract Umbilical hernia Epicanthus Myopia Microphthalmia Syndactyly Telecanthus Toe syndactyly Thin vermilion border Delayed eruption of teeth Microcornea Hypoplasia of the maxilla Small hand Short palpebral fissure Camptodactyly Conductive hearing impairment Unilateral cryptorchidism Avascular necrosis of the capital femoral epiphysis Curly eyelashes Osteopenia Protruding ear Abnormality of the nervous system Smooth philtrum Short palm Short metacarpal Short metatarsal Cone-shaped epiphysis Increased number of teeth Exostoses Sparse lateral eyebrow Long upper lip High forehead Accelerated bone age after puberty Pear-shaped nose Cone-shaped epiphyses of the middle phalanges of the hand Coxa magna Hearing impairment Sensorineural hearing impairment Depressed nasal bridge Wide nasal bridge Macrocephaly Anteverted nares Congenital onset Micropenis Oxycephaly Abnormality of the forearm



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