Intellectual disability, severe, and Flat face

Diseases related with Intellectual disability, severe and Flat face

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

Top matches:

MENTAL RETARDATION, X-LINKED 30; MRX30 Is also known as mental retardation, x-linked 47|mrx47

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • High palate


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 30; MRX30

Hennekam lymphangiectasia-lymphedema syndrome is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014).For a discussion of genetic heterogeneity of Hennekam lymphangiectasia-lymphedema syndrome, see HKLLS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency|semd, genevieve type|semdg|semd, geneviÈve type

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

Other less relevant matches:

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).Individuals with RCDP1, carrying mutations in the PEX7 gene, have cells of peroxisome biogenesis disorder (PBD) complementation group 11 (CG11, equivalent to CGR). For information on the history of PBD complementation groups, see {214100}. Genetic Heterogeneity of Rhizomelic Chondrodysplasia PunctataRCDP2 (OMIM ) is caused by mutation in the gene encoding acyl-CoA:dihydroxyacetonephosphate acyltransferase (GNPAT ) on chromosome 1q42. RCDP3 (OMIM ) is caused by mutation in the gene encoding alkyldihydroxyacetonephosphate synthase (alkyl-DHAP synthase) (AGPS ) on chromosome 2q31. RCDP5 (OMIM ) is caused by mutation in the gene encoding peroxisomal biogenesis factor-5 (PEX5 ) on chromosome 12p13.Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 and RCDP3 are classified as single peroxisome enzyme deficiencies (Waterham and Ebberink, 2012).

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 Is also known as pbd9|chondrodystrophia calcificans punctata|chondrodysplasia punctata, rhizomelic form|peroxisome biogenesis disorder 9|cdpr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1

ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX Is also known as alpha-thalassemia/mental retardation syndrome, nondeletion type|atr, nondeletion type|atr-x syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATRX

Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

High match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.

ZELLWEGER SYNDROME Is also known as zs|cerebrohepatorenal syndrome|zws|chr

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ZELLWEGER SYNDROME

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL-RAQAD SYNDROME; ARS

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

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Epicanthus

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Malar flattening Talipes equinovarus Wide nasal bridge Cognitive impairment Growth delay Ventricular septal defect Hearing impairment Anteverted nares Hydronephrosis Scoliosis High palate Low-set ears Cryptorchidism Microtia Pyloric stenosis Upslanted palpebral fissure Short nose Sensorineural hearing impairment Skeletal dysplasia Prominent forehead Pain Brachycephaly Micrognathia Thick lower lip vermilion Thick vermilion border Abnormality of the pinna Cataract Broad forehead Flexion contracture Respiratory insufficiency Atrial septal defect Abnormality of the dentition Protruding tongue Spina bifida occulta Abnormality of the skeletal system Brachydactyly Midface retrusion Hypospadias Posteriorly rotated ears Delayed eruption of teeth Macroglossia Ventriculomegaly Gastroesophageal reflux Muscular hypotonia Intestinal lymphangiectasia Camptodactyly Narrow mouth Syndactyly Intellectual disability, mild Delayed speech and language development

Rare Symptoms - Less than 30% cases

Clinodactyly Feeding difficulties Constipation Open mouth Craniosynostosis Conductive hearing impairment Flat occiput Micropenis Malabsorption Drooling Joint contracture of the hand Polysplenia Umbilical hernia Epiphyseal stippling Multicystic kidney dysplasia Edema Rhizomelia Narrow palate Abnormality of the metaphysis Cutaneous syndactyly Limitation of joint mobility Pulmonary hypoplasia Failure to thrive Intellectual disability, moderate Psychosis Tracheomalacia Renal cyst Thin upper lip vermilion Abnormal cardiac septum morphology Vesicoureteral reflux Coarctation of aorta Agenesis of corpus callosum Recurrent respiratory infections Abnormal heart morphology Hyperactivity Renal insufficiency Natal tooth U-Shaped upper lip vermilion Strabismus Large fontanelles Hepatomegaly Tented upper lip vermilion Aganglionic megacolon Dilatation Pectus excavatum Delayed skeletal maturation Glaucoma Dental malocclusion Aggressive behavior Hypothyroidism Everted lower lip vermilion Polyhydramnios Retrognathia Polymicrogyria Pachygyria Pulmonic stenosis Hirsutism Cleft palate Lymphopenia Hypoproteinemia Metaphyseal striations External ear malformation High, narrow palate High forehead Infantile muscular hypotonia Erysipelas Abnormality of the skin Patent ductus arteriosus Decreased antibody level in blood Synophrys Pulmonary lymphangiectasia Joint laxity Coarse facial features Pericardial lymphangiectasia Macrocephaly Nystagmus Cerebral atrophy Hydrocephalus Hypoplasia of the corpus callosum Short neck Lymphedema Flared metaphysis Single transverse palmar crease Frontal bossing Abnormality of metabolism/homeostasis Spasticity Cleft lip Hernia Kyphoscoliosis Severe short stature Cerebral cortical atrophy Encephalopathy Tapetoretinal degeneration Ulnar deviation of the hand Profound global developmental delay Hepatic cysts Abnormality of the mitochondrion Labial hypoplasia Optic disc pallor Redundant neck skin Abnormality of the helix Breech presentation Optic atrophy Widely patent fontanelles and sutures Abnormality of the tongue Albuminuria Sandal gap Decreased liver function Heterotopia Wide anterior fontanel Brushfield spots Renal cortical microcysts Leukodystrophy Brachyturricephaly Abnormal chorioretinal morphology Cholestasis Renal cortical cysts Ulnar deviation of the hand or of fingers of the hand Thickened nuchal skin fold Glutaric aciduria Visual loss Cubitus valgus Bell-shaped thorax Severe muscular hypotonia Round face Intellectual disability, progressive Hyperoxaluria Congenital glaucoma Premature birth Aciduria Abnormality of coagulation Hepatic failure Reduced tendon reflexes Abnormality of neuronal migration Metatarsus adductus Aplasia/Hypoplasia of the corpus callosum Rocker bottom foot Abnormal electroretinogram Polycystic kidney dysplasia Opacification of the corneal stroma Stage 5 chronic kidney disease Clitoral hypertrophy Hyporeflexia Adrenal hypoplasia Areflexia Posterior embryotoxon Primary adrenal insufficiency Underdeveloped supraorbital ridges Nephrocalcinosis Acidosis Prolonged neonatal jaundice Pigmentary retinopathy Jaundice Hypoplasia of dental enamel EEG abnormality Elevated hepatic transaminase Feeding difficulties in infancy Corneal opacity Aminoaciduria Bifid uvula Subependymal cysts Partial agenesis of the corpus callosum Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Fibular hypoplasia Anal stenosis Submucous cleft hard palate Thickened calvaria Mixed hearing impairment Thoracic dysplasia Visual field defect Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Motor delay Absent speech Nephroblastoma Deeply set eye Ectopic anus Broad ribs Neonatal hypotonia Rough bone trabeculation Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Osteopathia striata Large iliac wings Laryngotracheomalacia Alobar holoprosencephaly Broad clavicles Flexion contracture of toe Paranasal sinus hypoplasia Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Fibular aplasia Delayed closure of the anterior fontanelle White forelock Facial paralysis Large forehead Straight clavicles Overfolded helix Unsteady gait Elevated long chain fatty acids Clinodactyly of the 5th finger Cleft upper lip Arachnodactyly Anal atresia Ophthalmoplegia Dolichocephaly Paralysis Hyperlordosis Apnea Facial palsy Abnormality of cardiovascular system morphology Thin vermilion border Headache Long philtrum Myopathy Downslanted palpebral fissures Ptosis Neoplasm Hypoplastic olfactory lobes Intrahepatic biliary dysgenesis Sudanophilic leukodystrophy Very long chain fatty acid accumulation Long face Broad nasal tip Metaphyseal widening Aortic valve stenosis Increased susceptibility to fractures Inability to walk Nasal speech Mutism Holoprosencephaly Osteolysis Microretrognathia Spontaneous abortion Spina bifida Increased bone mineral density Abnormal vertebral morphology Intestinal malrotation Dental crowding Omphalocele Lumbar hyperlordosis Oligohydramnios Narrow forehead Cerebral calcification Specific learning disability Hypopigmentation of the skin Wide intermamillary distance Webbed neck Visual impairment Conotruncal defect Pleural lymphangiectasia Hypertonia Ambiguous genitalia Renal agenesis Tapered finger Postnatal growth retardation Irritability Telecanthus Abdominal pain Pneumonia Vomiting Recurrent urinary tract infections Dysphagia Anemia Pregnancy exposure Calcific stippling of infantile cartilaginous skeleton Bilateral cleft palate Coronal cleft vertebrae Multiple epiphyseal dysplasia Delayed CNS myelination Abnormality of the genital system Aspiration Severe failure to thrive Decreased serum testosterone level Reduced alpha/beta synthesis ratio Widely-spaced maxillary central incisors Triangular mouth Absent frontal sinuses Abnormal hemoglobin Ileus Perimembranous ventricular septal defect Hypochromic microcytic anemia Volvulus Coxa valga Chronic constipation Facial hypotonia Male pseudohermaphroditism Shawl scrotum Microcytic anemia Hydroureter Spastic diplegia Radial deviation of finger Hemivertebrae Concave nasal ridge Sparse body hair Hemoglobin H Blepharophimosis Low anterior hairline Low posterior hairline Wide nose Bulbous nose Confusion Platyspondyly Ataxia Irregular dentition Osteoporosis Spondyloepiphyseal dysplasia Long ear Short attention span Restlessness Agitation Schizophrenia Delayed gross motor development Anxiety Macrotia Metaphyseal irregularity Short femoral neck Congenital contracture Severe global developmental delay Epiphyseal dysplasia Abnormality of epiphysis morphology Congenital diaphragmatic hernia Limb undergrowth Short distal phalanx of finger Ichthyosis Dry skin Congenital cataract Alopecia Irregular vertebral endplates Small basal ganglia Posterior scalloping of vertebral bodies Long fibula Narrow iliac wings Carpal bone hypoplasia Irregular epiphyses Small epiphyses Spondyloepimetaphyseal dysplasia Flat acetabular roof Endometriosis Hypoganglionosis Thyroid lymphangiectasia Bilateral single transverse palmar creases Abnormality of dental morphology Pleural effusion Hypoalbuminemia Reduced number of teeth Oligodontia Abnormal intestine morphology Horseshoe kidney Hypocalcemia Hydrops fetalis Pericardial effusion Gingival overgrowth Ascites Short foot Small hand Short palm Lymphadenopathy Smooth philtrum Abnormality of the foot Ectopic kidney Cutaneous finger syndactyly Finger syndactyly Rectal prolapse Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Lymphangioma Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Periorbital edema Increased number of teeth Protein-losing enteropathy Generalized edema Sparse axillary hair Nonimmune hydrops fetalis Arteriovenous malformation Hypoplastic iliac wing Edema of the lower limbs Coronal craniosynostosis Palpebral edema Narrow chest Short philtrum Behavioral abnormality Poor speech Chronic otitis media Bicuspid aortic valve Stereotypy Hypoplasia of penis Tetralogy of Fallot Sleep disturbance Highly arched eyebrow Downturned corners of mouth Facial asymmetry Apathy Abnormality of the cerebral white matter Autistic behavior Developmental regression Dyspnea Mandibular prognathia Autism Arrhythmia Obesity Self-injurious behavior Obsessive-compulsive behavior Camptodactyly of finger Exaggerated cupid's bow Respiratory tract infection Abnormality of the kidney Hepatosplenomegaly Splenomegaly Congestive heart failure Diarrhea Respiratory distress Tracheobronchomalacia Bronchomalacia Impulsivity Persistence of primary teeth Abnormal myelination Advanced eruption of teeth Abnormal renal morphology Thickened helices Self-mutilation Pulmonary artery stenosis Bowel incontinence Supernumerary nipple Hyperplasia of the maxilla


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