Intellectual disability, and Pectus carinatum

Diseases related with Intellectual disability and Pectus carinatum

In the following list you will find some of the most common rare diseases related to Intellectual disability and Pectus carinatum that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Amish nemaline myopathy is a type of nemaline myopathy (NM; see this term) only observed in several families of the Amish community.

AMISH NEMALINE MYOPATHY Is also known as amish nemaline myopathy|anm|nemaline myopathy, amish type

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Tremor


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AMISH NEMALINE MYOPATHY

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Strabismus
  • Behavioral abnormality
  • High forehead


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE; MRXSR

Other less relevant matches:

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about PYCR2-RELATED MICROCEPHALY-PROGRESSIVE LEUKOENCEPHALOPATHY

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Top 5 symptoms//phenotypes associated to Intellectual disability and Pectus carinatum

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Pectus carinatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Feeding difficulties Pes planus Microcephaly Spasticity Abnormal facial shape Joint laxity Short neck Arachnodactyly Absent speech Kyphosis Myopia Hyperlordosis

Rare Symptoms - Less than 30% cases

Ataxia Nystagmus Abnormality of the rib cage Strabismus Behavioral abnormality Attention deficit hyperactivity disorder Hypertelorism Aggressive behavior Anxiety Gastroesophageal reflux Hearing impairment Low-set ears Postnatal microcephaly Narrow forehead Thick vermilion border Pain Arthralgia Coarse facial features Genu valgum Hypertonia Stereotypy Skeletal muscle atrophy Lumbar hyperlordosis Mandibular prognathia Prominent forehead Pectus excavatum Intellectual disability, mild Motor delay Flexion contracture Failure to thrive Frontal bossing Kyphoscoliosis High palate Brachydactyly Self-injurious behavior Hypoplastic pelvis Disproportionate short-trunk short stature Barrel-shaped chest Smooth philtrum Generalized tonic-clonic seizures Abnormality of the pinna Muscular hypotonia of the trunk Cerebral cortical atrophy Upslanted palpebral fissure Long philtrum Myelopathy Arthralgia of the hip Anteverted nares Downslanted palpebral fissures Hyperreflexia Flattened femoral head Small forehead Atlantoaxial instability Short nose Babinski sign Broad metatarsal Broad phalanx Flattened epiphysis Thoracolumbar kyphosis Hypoplasia of the corpus callosum Broad femoral neck Malar flattening Thin vermilion border Overfolded helix Bulbous nose Autism Abnormality of brain morphology Exaggerated median tongue furrow Micrognathia Epicanthus Gait disturbance Constipation Hyperactivity Gait ataxia Developmental regression Hyperplasia of the maxilla Autistic behavior Wide mouth Short philtrum Abnormal cerebellum morphology Underdeveloped nasal alae Hypotelorism Short palpebral fissure Thick lower lip vermilion Thoracic kyphoscoliosis Butterfly vertebrae Inability to walk Long toe Triangular face Brain atrophy Progressive microcephaly Leukodystrophy Mutism CNS hypomyelination Limited elbow extension Global brain atrophy Muscular hypotonia Vertebral fusion Delayed speech and language development Optic atrophy Mitral regurgitation Abnormality of the genital system Dental crowding Exotropia Narrow palate 2-3 toe syndactyly Hypoplasia of the odontoid process Clinodactyly Metaphyseal irregularity Decreased hip abduction Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Delayed gross motor development Hip contracture Proximal amyotrophy Nemaline bodies Type 1 muscle fiber predominance Shoulder flexion contracture Progressive muscle weakness High forehead Camptodactyly Protruding ear Schizophrenia Pyloric stenosis Disproportionate tall stature Frontal upsweep of hair Joint contracture of the 5th finger Hypocalcemia Neonatal hypotonia Depressed nasal bridge Growth abnormality Macrocephaly Intellectual disability, severe Prominent nasal bridge Narrow chest Long face Hypoplasia of the maxilla Narrow face Nasal speech Rigidity Abnormality of the sternum Abnormality of the musculature Long foot Slender build Tremor Respiratory insufficiency Myopathy Hypoglycemia Cognitive impairment Dysphagia Short metatarsal Severe short stature Toe syndactyly Abnormality of movement Chorea Blue sclerae Cerebral visual impairment Rotary nystagmus Ankyloglossia Posteriorly rotated ears Visual impairment Platyspondyly Small hand Limitation of joint mobility Short metacarpal Limb undergrowth Decreased body weight Short phalanx of finger Rhizomelia Syndactyly Cleft palate Atrial septal defect Cardiomegaly Dolichocephaly Pulmonic stenosis Webbed neck Hyperpigmentation of the skin Poor suck Mild short stature Thickened helices Joint stiffness Aortic valve stenosis Increased serum beta-hexosaminidase Opacification of the corneal stroma Aortic regurgitation Abnormality of the hand Spondyloepiphyseal dysplasia Dysostosis multiplex Flared iliac wings Flat capital femoral epiphysis Increased serum iduronate sulfatase activity Obsessive-compulsive behavior


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Vertigo, related diseases and genetic alterations Myopia and Waddling gait, related diseases and genetic alterations Macrocephaly and Kyphoscoliosis, related diseases and genetic alterations Ptosis and Hepatic steatosis, related diseases and genetic alterations Muscular hypotonia and Edema, related diseases and genetic alterations Ataxia and Craniosynostosis, related diseases and genetic alterations