Micrognathia, and Severe short stature

Diseases related with Micrognathia and Severe short stature

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

Top matches:

Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (summary by Shanske et al., 1997).For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 8; SCKL8

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.

LANGER MESOMELIC DYSPLASIA Is also known as mesomelic dwarfism, langer type|mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type|dyschondrosteosis, homozygous

Related symptoms:

  • Micrognathia
  • High palate
  • Severe short stature
  • Micromelia
  • Lumbar hyperlordosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LANGER MESOMELIC DYSPLASIA

Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Other less relevant matches:

Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1B Is also known as achondrogenesis, parenti-fraccaro type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Talipes equinovarus
  • Anteverted nares


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1B

Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP3 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3 Is also known as alkylglycerone-phosphate synthase deficiency|alkyldihydroxyacetonephosphate synthase deficiency|agps deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 3

Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical 'bird-head' facial appearance (summary by Kalay et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 5; SCKL5

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

High match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis (see this term), is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.

ACHONDROGENESIS TYPE 1A Is also known as achondrogenesis, houston-harris type

Related symptoms:

  • Micrognathia
  • Macrocephaly
  • Frontal bossing
  • Anteverted nares
  • Short neck


SOURCES: ORPHANET MENDELIAN

More info about ACHONDROGENESIS TYPE 1A

Top 5 symptoms//phenotypes associated to Micrognathia and Severe short stature

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micromelia High palate Short foot Global developmental delay Sloping forehead Intrauterine growth retardation Growth delay

Rare Symptoms - Less than 30% cases

Umbilical hernia Cortical gyral simplification Talipes equinovarus Anteverted nares Short nose Long philtrum Abnormality of cardiovascular system morphology Polyhydramnios Macrocephaly Cystic hygroma Narrow chest Flat face Hydrops fetalis Short thorax Cerebellar hypoplasia Thickened nuchal skin fold Aplasia/Hypoplasia of the lungs Lethal skeletal dysplasia Femoral hernia Abnormal enchondral ossification Spasticity Rhizomelia Delayed skeletal maturation Prominent nose Abnormal facial shape Disproportionate short-limb short stature Strabismus Seizures Convex nasal ridge Radial bowing Midface retrusion Recurrent fractures Skeletal dysplasia High forehead Malar flattening Sandal gap Short palm Elbow dislocation Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Abnormality of the endocrine system Hypoplasia of the maxilla Scoliosis Depressed nasal bridge Cleft palate Metaphyseal sclerosis Abdominal distention Restrictive cardiomyopathy Partial agenesis of the corpus callosum Mild short stature Round face Small hand Craniosynostosis Agenesis of corpus callosum Pneumonia Absent speech Cardiomyopathy Abnormality of the skull Abnormality of the elbow Prominent occiput Microdontia Motor delay Tombstone-shaped proximal phalanges Hypoglycemia Widened distal phalanges Cervical segmentation defect Horizontal sacrum Delayed puberty Hitchhiker thumb Cervical kyphosis Large beaked nose Flat acetabular roof Delayed eruption of teeth Hypoplasia of penis Brachydactyly Blue sclerae Depressed nasal ridge Osteoarthritis Hypohidrosis Short toe Hypercholesterolemia Reduced number of teeth High pitched voice Truncal obesity Tibial bowing Prematurely aged appearance Underdeveloped supraorbital ridges Knee dislocation Wide nasal bridge Selective tooth agenesis Abnormality of the ulna Cerebellar atrophy Optic atrophy Visual impairment Cataract Broad ulna Rudimentary fibula Shortening of the tibia Mesomelic/rhizomelic limb shortening Aplasia/Hypoplasia of the fibula Mesomelic short stature Abnormality of the carpal bones Madelung deformity Ulnar deviation of finger Cerebral atrophy Broad palm Mesomelia Short femoral neck Hypoplasia of the ulna Hypoplasia of the radius Abnormality of epiphysis morphology Bowing of the long bones Lumbar hyperlordosis Spinal cord compression Ectopic kidney Paraplegia Kyphoscoliosis Microphthalmia Proptosis 11 pairs of ribs Short femur Abnormal cortical gyration Proportionate short stature Clitoral hypertrophy Oligodontia Hypodontia Prominent nasal bridge Blepharophimosis Pes planus Retrognathia Clinodactyly of the 5th finger Downslanted palpebral fissures Cryptorchidism Epiphyseal stippling Retinopathy Short humerus Congenital contracture Intellectual disability, severe Epicanthus Flexion contracture Failure to thrive Disproportionate short stature Abnormality of the ribs Macular atrophy Hypoplasia of the brainstem Optic nerve hypoplasia Optic disc pallor Microcornea Multiple rib fractures


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