Intellectual disability, severe, and Triangular face

Diseases related with Intellectual disability, severe and Triangular face

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

Top matches:

Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

Other less relevant matches:

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

DISTAL MONOSOMY 15Q Is also known as monosomy 15q26|drayer syndrome|telomeric 15q deletion syndrome|distal 15q deletion syndrome|15q26 deletion syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DISTAL MONOSOMY 15Q

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome.

RENPENNING SYNDROME 1; RENS1 Is also known as mrxs3|mental retardation, x-linked, syndromic 3|shs|mental retardation, x-linked, renpenning type|golabi-ito-hall syndrome|mental retardation, x-linked 55|mental retardation, x-linked, syndromic 8|mrxs8|mrx55|mental retardation, x-linked, with spastic dip

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RENPENNING SYNDROME 1; RENS1

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

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Intellectual developmental disorder with neuropsychiatric features is an autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. Mild facial dysmorphic features may also be present (summary by Srour et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES; IDDNPF

X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Delayed speech and language development

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Short stature Severe short stature Thin upper lip vermilion Hypertelorism Intrauterine growth retardation Strabismus Growth delay Macrotia High, narrow palate Feeding difficulties Scoliosis Depressed nasal bridge Wide nasal bridge Short philtrum Prominent forehead Cleft palate Autism Blepharophimosis Smooth philtrum Intellectual disability, moderate Brachycephaly Long face Pectus excavatum Postnatal growth retardation Protruding ear High palate Camptodactyly Abnormality of the skeletal system Talipes equinovarus Long philtrum Narrow mouth Mandibular prognathia Macrocephaly Thin vermilion border Muscular hypotonia Low-set ears Malar flattening Deeply set eye Anxiety Wide mouth Poor speech Hearing impairment Widely spaced teeth Micrognathia Spasticity Autistic behavior Hypospadias Highly arched eyebrow Atrial septal defect Ventricular septal defect Small for gestational age

Rare Symptoms - Less than 30% cases

Narrow foot Eclabion Coarse facial features Single umbilical artery Upslanted palpebral fissure Hypoglycemia Brachydactyly Abnormality of the dentition Clinodactyly Epicanthus Abnormality of the pinna Aggressive behavior Hip dislocation Synophrys Cupped ear Renal hypoplasia Clinodactyly of the 5th finger Abnormal heart morphology Intellectual disability, mild Behavioral abnormality Sensorineural hearing impairment Curly eyelashes Broad columella Short metatarsal Long eyelashes Short palpebral fissure Thick eyebrow Sparse hair Pulmonary hypoplasia Narrow nasal bridge Alopecia Delayed skeletal maturation Hernia Absent speech Anteverted nares Downslanted palpebral fissures Recurrent hypoglycemia Short middle phalanx of finger Congenital diaphragmatic hernia Broad nasal tip Single transverse palmar crease Small hand Dislocated radial head Low anterior hairline Prominent nose Elbow flexion contracture Focal-onset seizure Micropenis Hyperactivity Frontal bossing Flexion contracture Craniosynostosis Arachnodactyly Everted lower lip vermilion Hypoplasia of the maxilla Cognitive impairment Nystagmus Joint contracture of the hand Broad-based gait Tremor Attention deficit hyperactivity disorder Wide nose Respiratory tract infection Micromelia Toe syndactyly Pulmonic stenosis Prominent nasal bridge Pallor Telecanthus Vertigo Hypertrophic cardiomyopathy Proteinuria Conductive hearing impairment Chorioretinal coloboma Retrognathia Gastroesophageal reflux Proptosis Astigmatism Cleft upper lip Hyperhidrosis Vesicoureteral reflux High myopia Microdontia Otitis media Poor suck Nasal speech Webbed neck Failure to thrive in infancy Hirsutism Sepsis Renal cyst Microcornea Delayed eruption of teeth Sleep disturbance Tapered finger Downturned corners of mouth Glaucoma Abnormality of the rib cage Small face Moderately short stature Prominent metopic ridge Abnormal hair laboratory examination Sprengel anomaly Decreased head circumference Round ear Phimosis Ankylosis Neoplasm Sparse lateral eyebrow Macrodontia Anteverted ears Thin eyebrow Heterotaxy Abnormality of the thumb High hypermetropia Spastic diplegia Inguinal hernia Blue sclerae Thrombocytopenia Headache Syndactyly Hypertonia Vomiting Cardiomyopathy Hydrocephalus Mild short stature Short neck Optic atrophy Fever Myopia Hypertension Anemia Ptosis Pneumonia Hallux valgus Low posterior hairline Duplication of internal organs Kyphosis Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Projectile vomiting Tall stature Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Absent hand Gastroparesis Supernumerary ribs Pes planus Pointed chin Hand oligodactyly Lower limb spasticity Stuttering Hydranencephaly Cogwheel rigidity Focal dystonia Limb dystonia Infantile spasms Lissencephaly Rigidity Generalized-onset seizure EEG abnormality Dystonia Dysarthria Obsessive-compulsive trait Hyperparathyroidism Unilateral renal agenesis Obsessive-compulsive behavior Nephrocalcinosis Phocomelia Perimembranous ventricular septal defect Hypertrichosis Abnormality of the urinary system Tricuspid regurgitation Clubbing Proximal placement of thumb Self-injurious behavior Pyloric stenosis Deep philtrum Incoordination Hypoplasia of the radius 2-3 toe syndactyly Relative macrocephaly Torticollis Spontaneous abortion Increased body weight Aspiration Narrow face Recurrent urinary tract infections Choanal atresia Cutis marmorata Ectopic kidney Short sternum Esophagitis Peters anomaly Panhypopituitarism Volvulus Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Aspiration pneumonia Opisthotonus Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Weak cry Abnormality of digit Limited elbow extension Cachexia Anal atresia Abnormality of the hair Cafe-au-lait spot Focal impaired awareness seizure Flat occiput Bicuspid aortic valve Multicystic kidney dysplasia Finger clinodactyly Short thumb Small nail Short finger Coarctation of aorta External genital hypoplasia Long nose Poor eye contact Enlarged cisterna magna Short distal phalanx of finger Microphallus Hypoplastic left heart Cystic hygroma Abnormality of the philtrum Exodeviation Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Low 1-minute APGAR score Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis 2-3 toe cutaneous syndactyly Aplasia cutis congenita over the scalp vertex Mitral atresia Mitral stenosis Abnormal aortic arch morphology Decreased serum insulin-like growth factor 1 Short proximal phalanx of finger Abnormal localization of kidney Prominent supraorbital ridges Bifid tongue Generalized joint laxity Joint hypermobility Talipes Abnormality of cardiovascular system morphology Choanal stenosis Camptodactyly of toe Ulnar bowing Long hallux Lateral clavicle hook Knee flexion contracture Hypoplastic scapulae Laryngomalacia Glenoid fossa hypoplasia Sclerocornea Abnormal eyebrow morphology Narrow nose Congenital contracture Thin ribs Slender long bone Stridor Distal ulnar hypoplasia Long metacarpals Genu valgum Patent ductus arteriosus Retrocerebellar cyst Infra-orbital crease Abnormal cardiac septum morphology Disorganization of the anterior cerebellar vermis Respiratory distress Abnormality of the kidney Hydronephrosis Asthma Slender metacarpals Underdeveloped nasal alae Convex nasal ridge Dandy-Walker malformation Ambiguous genitalia Bowing of the long bones Dental crowding Cardiac arrest Hypotelorism Obesity Situs inversus totalis Prominent eyelashes Skeletal muscle atrophy Hyperreflexia Cataract Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent interphalangeal joints Motor delay Ataxia Clubbing of toes Thick nasal alae Excessive wrinkled skin Broad distal phalanx of finger Wide nasal base Enlarged joints Broad philtrum Blindness Microphthalmia Abnormal hair pattern Paraplegia Thick vermilion border Abnormality of the ribs Tetralogy of Fallot Decreased testicular size Iris coloboma Bulbous nose Femoral bowing Hypermetropia Cerebral atrophy Spastic paraplegia Coloboma Joint stiffness Abnormality of the nervous system Diabetes mellitus Pes cavus Decreased body weight Abnormality of the testis Echolalia Abnormal cerebellum morphology Full cheeks Cerebellar hypoplasia Thick lower lip vermilion Status epilepticus Eczema Specific learning disability Wide intermamillary distance Short metacarpal Short palm Dilatation Cerebral cortical atrophy Gait ataxia Hypotrichosis Neonatal hypotonia Neurological speech impairment Osteoporosis Dysmetria Sparse scalp hair Short phalanx of finger Abnormality of finger Abnormality of the metacarpal bones Epileptic spasms Protruding tongue Dysphasia Aphasia Absent eyebrow Cone-shaped epiphysis Overfolded helix Mutism Abnormality of epiphysis morphology Drooling Sandal gap Accelerated skeletal maturation Narrow palpebral fissure Joint dislocation Absence seizures Ventriculomegaly Grasp reflex


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