Intellectual disability, severe, and Micromelia

Diseases related with Intellectual disability, severe and Micromelia

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

Top matches:

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

High match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).

CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about CORNELIA DE LANGE SYNDROME

Other less relevant matches:

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.

PETERS PLUS SYNDROME Is also known as peters anomaly with short-limb dwarfism|krause-kivlin syndrome|krause-van schooneveld-kivlin syndrome|peters anomaly with short limb dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PETERS PLUS SYNDROME

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Medium match HYPOCHONDROPLASIA

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.

SPONDYLOENCHONDRODYSPLASIA Is also known as spencd|spondylometaphyseal dysplasia with enchondromatous changes|spondyloenchondromatosis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Abnormality of the dentition
  • Kyphosis
  • Kyphoscoliosis


SOURCES: MESH ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEVELOPMENTAL MALFORMATIONS-DEAFNESS-DYSTONIA SYNDROME

Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.

CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME Is also known as nivelon-nivelon-mabille syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Strabismus
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHONDRODYSPLASIA-DISORDER OF SEX DEVELOPMENT SYNDROME

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Micromelia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Micromelia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Ventricular septal defect Anteverted nares Strabismus Micrognathia Hypertelorism Growth delay Toe syndactyly Cryptorchidism Long philtrum Severe short stature Hearing impairment Nystagmus Failure to thrive Kyphosis Hydrocephalus High palate Brachydactyly Short neck Short nose Sensorineural hearing impairment Gastroesophageal reflux Abnormal heart morphology Clinodactyly of the 5th finger Multicystic kidney dysplasia Low-set, posteriorly rotated ears Hip dislocation Generalized hypotonia Thin vermilion border Proximal placement of thumb Syndactyly Congenital diaphragmatic hernia Atrial septal defect Cataract Rhizomelia Ptosis Hypospadias Craniosynostosis Glaucoma Polyhydramnios Pectus excavatum Clinodactyly Delayed skeletal maturation Aplasia/Hypoplasia of the corpus callosum Choanal atresia Upslanted palpebral fissure Proptosis Short toe Hypertonia Cleft lip Wide mouth Ventriculomegaly Myopia Macrocephaly Optic atrophy Pyloric stenosis Hypoplastic labia majora Short metacarpal Limb undergrowth Abnormality of cardiovascular system morphology Brachycephaly Autism Hypertension Webbed neck Skeletal dysplasia Abnormality of pelvic girdle bone morphology Sleep disturbance Abnormal facial shape Muscular hypotonia Delayed eruption of teeth Feeding difficulties in infancy Microcornea Abnormal form of the vertebral bodies Low-set ears Cleft upper lip Conductive hearing impairment Talipes equinovarus Wide nasal bridge Renal hypoplasia/aplasia Cutis marmorata

Rare Symptoms - Less than 30% cases

Macrotia Widely spaced teeth Aplasia/Hypoplasia of the cerebellum Downturned corners of mouth Small hand Cerebral cortical atrophy Thick eyebrow Long eyelashes Highly arched eyebrow Premature birth Low anterior hairline Synophrys Vesicoureteral reflux Attention deficit hyperactivity disorder Intestinal malrotation Hypoplasia of penis Low posterior hairline Pulmonary hypoplasia Hypoplastic nipples Abnormality of the dentition Short metatarsal Peters anomaly Mesomelic short stature Feeding difficulties Fever Abnormality of the skeletal system Vomiting Behavioral abnormality Decreased fetal movement Hyperactivity Retrognathia Hypoglycemia Aggressive behavior Telecanthus Autistic behavior Small for gestational age Male pseudohermaphroditism Wide intermamillary distance Oligodactyly Postnatal growth retardation Volvulus Increased nuchal translucency Curly eyelashes Inguinal hernia Prominent forehead Thin upper lip vermilion Renal cyst Abnormality of the pinna Renal hypoplasia Abnormality of digit 2-3 toe syndactyly Pulmonic stenosis Iris coloboma Single transverse palmar crease Self-injurious behavior Abnormality of the urinary system Hydronephrosis Short foot Abnormality of the clavicle Brain atrophy Flexion contracture Sacral dimple Redundant skin Epicanthus Sleep apnea Bilateral single transverse palmar creases Wide anterior fontanel Gingival overgrowth Platyspondyly Abnormality of the genital system Patent ductus arteriosus Intellectual disability, profound Clitoral hypertrophy Constipation Postaxial hand polydactyly Otitis media Agenesis of corpus callosum Posteriorly rotated ears High myopia Postaxial polydactyly Hirsutism Oral cleft Polydactyly Lumbar hyperlordosis Smooth philtrum Mesomelia Talipes Biparietal narrowing Abnormality of the metaphysis Hypoplasia of the corpus callosum Congestive heart failure Postaxial foot polydactyly Frontal bossing Broad alveolar ridges Kyphoscoliosis Ulnar deviation of finger Dislocated radial head Hyperlordosis Hyponatremia Hammertoe Unilateral renal agenesis Ambiguous genitalia Oligohydramnios Coarctation of aorta Poor suck Cerebellar vermis hypoplasia Eczema Abnormality of the ribs Reduced number of teeth Precocious puberty Abnormality of the metacarpal bones Optic nerve hypoplasia Hyperbilirubinemia Aganglionic megacolon Amblyopia Split hand Bell-shaped thorax Short thumb Recurrent otitis media Abnormality of dental enamel Dental crowding Holoprosencephaly Cutaneous photosensitivity Chorioretinal coloboma Hypercholesterolemia Abnormal dermatoglyphics Hypoplasia of the iris Scrotal hypoplasia Short phalanx of finger Abnormality of limbs Narrow forehead Hypoplastic male external genitalia Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Left-to-right shunt Trapezoidal shaped vertebral bodies Hypertropia Esophageal stenosis Absent hand Abnormality of the umbilicus Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Panhypopituitarism Recurrent hypoglycemia Reduced renal corticomedullary differentiation Hypoplastic radial head Peripheral demyelination Micropenis Miosis Dandy-Walker malformation Renal agenesis Abnormality of the shoulder Hypopigmentation of the skin Bifid scrotum Abnormality of the kidney Intellectual disability, moderate Cerebellar hypoplasia Dysplastic tricuspid valve Recurrent infections Microphthalmia Broad long bones Diarrhea Edema Downslanted palpebral fissures Spasticity Brain very small Finger syndactyly Abnormal lung lobation Narrow chest Immunodeficiency Metaphyseal enchondromatosis Abnormality of radial metaphyses Dysphagia Abnormality of the gallbladder Blindness Hypoplasia of the frontal lobes Dystonia Intellectual disability, mild Periventricular gray matter heterotopia Abnormality of ulnar metaphysis Talipes calcaneovalgus Increased serum testosterone level Hip subluxation Median cleft palate High forehead Gastroschisis Mental deterioration Ectopic calcification Abnormality of the tibial metaphysis Optic nerve coloboma Neurodegeneration Abnormality of femur morphology Joint hyperflexibility Osteoarthritis Facial capillary hemangioma Bowing of the long bones Genu varum Spinal canal stenosis Opsoclonus Abnormality of the elbow Childhood onset short-limb short stature Large iliac wings Cerebral calcification Abnormality of epiphysis morphology Severe photosensitivity Spondylometaphyseal dysplasia Alveolar ridge overgrowth Sleep-wake cycle disturbance Progressive spastic quadriplegia Septate vagina Ureteropelvic junction obstruction Advanced eruption of teeth Abnormality of dental morphology Blepharophimosis Externally rotated hips Self-mutilation Upper limb undergrowth Deeply set eye Abnormal eyelash morphology Severe intrauterine growth retardation Elevated 7-dehydrocholesterol Epiphyseal stippling Coloboma Bulbar signs Hypopigmentation of hair Aplasia/Hypoplasia of the radius Increased number of teeth Atrioventricular canal defect Hyperkalemia Adrenal insufficiency Overlapping toe Metatarsus adductus Achalasia Hypoplastic scapulae Decreased circulating aldosterone level Bicornuate uterus Hypocholesterolemia Abnormal localization of kidney Aplasia/Hypoplasia affecting the eye Abnormal renal morphology Gastrointestinal dysmotility Abnormality of the larynx Cholestatic liver disease Macroglossia Breech presentation Microglossia Bifid tongue Overlapping fingers Sex reversal Excessive daytime somnolence Tracheal stenosis Generalized dystonia Sclerocornea Severe failure to thrive Mild global developmental delay Thick upper lip vermilion Communicating hydrocephalus Abnormality of the gastrointestinal tract Renal insufficiency Generalized hirsutism Primary amenorrhea Hip dysplasia Delayed puberty Neurological speech impairment Joint stiffness Anxiety Peripheral neuropathy Radioulnar synostosis Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Atresia of the external auditory canal Elbow dislocation Metopic synostosis Visual impairment Abnormal cardiac septum morphology Protruding ear Joint laxity Umbilical hernia Hypothyroidism Pes cavus Dilatation Cerebral atrophy Abnormally low-pitched voice Obsessive-compulsive behavior Prenatal movement abnormality Phthisis bulbi Abnormality of the uterus Short 1st metacarpal Abnormality of the ulna Severe postnatal growth retardation Blepharitis Truncal obesity Female pseudohermaphroditism Abnormality of the anus Anal atresia Femoral bowing Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Cloverleaf skull Central apnea Megalencephaly Tibial bowing Thoracic hypoplasia Motor delay Acanthosis nigricans Exotropia Pulmonary arterial hypertension Epidermal acanthosis Generalized-onset seizure Severe global developmental delay Respiratory failure Midface retrusion Enlarged cerebellum Hepatomegaly Accessory oral frenulum Trigonocephaly Medulloblastoma Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Abnormal hair pattern Anal stenosis Abnormality of immune system physiology Multiple joint contractures Radial deviation of finger Hand polydactyly Neonatal hypotonia Failure to thrive in infancy Cutis laxa Short chin Joint dislocation Horseshoe kidney Omphalocele Tetralogy of Fallot Limitation of joint mobility Corneal opacity Short palm Esophagitis Astigmatism Blue sclerae Microdontia Sepsis Triangular face Tapered finger High, narrow palate Vertigo Prominent nasal bridge Recurrent urinary tract infections Pallor Respiratory tract infection Camptodactyly Hypertrophic cardiomyopathy Proteinuria Mandibular prognathia Narrow mouth Hyperhidrosis Hypertrichosis Aspiration Hernia Short middle phalanx of finger Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Weak cry Limited elbow extension Opisthotonus Ectopic kidney Tricuspid regurgitation Increased body weight Clubbing Deep philtrum Incoordination Hypoplasia of the radius Relative macrocephaly Torticollis Spontaneous abortion Elbow flexion contracture Pneumonia Thrombocytopenia Round face Hypoplasia of the uterus Ureteral duplication Anterior hypopituitarism Retinal coloboma Diastasis recti Stenosis of the external auditory canal Short columella Broad neck Blurred vision Abnormality of the pulmonary artery Preauricular pit Disproportionate short-limb short stature Spina bifida occulta Intellectual disability, progressive Hemivertebrae Preauricular skin tag Decreased body weight Short palpebral fissure Biliary tract abnormality Limited elbow movement Headache Intestinal fistula Cardiomyopathy Delayed speech and language development Anemia Neoplasm Microtia, second degree Agenesis of maxillary lateral incisor Bilobate gallbladder Anterior chamber synechiae Square pelvis bone Clitoral hypoplasia Facial hypertrichosis Aplasia/hypoplasia of the extremities Conical incisor Short lingual frenulum Hypoplasia of the vagina Birth length less than 3rd percentile Exaggerated cupid's bow Rieger anomaly Increased skull ossification


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