Cleft palate, and EEG abnormality

Diseases related with Cleft palate and EEG abnormality

In the following list you will find some of the most common rare diseases related to Cleft palate and EEG abnormality that can help you solving undiagnosed cases.


Top matches:

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42


Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

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Other less relevant matches:

Low match FOWLER SYNDROME


The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Low match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

Low match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Low match MEHMO SYNDROME


MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Low match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Cleft palate and EEG abnormality

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and EEG abnormality. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Cleft upper lip Strabismus Wide nasal bridge Macrotia Downslanted palpebral fissures Abnormal facial shape Hypohidrosis Short stature Hypogonadism Abnormality of dental morphology Growth delay Cleft lip Hypsarrhythmia Hyperactivity Attention deficit hyperactivity disorder Nystagmus Myopia Autism Hypertonia

Rare Symptoms - Less than 30% cases


Abnormality of the ureter Cutaneous finger syndactyly Abnormality of the ear Oral cleft Palmoplantar hyperkeratosis Highly arched eyebrow Scrotal hypoplasia Abnormality of dental enamel Sparse eyelashes Nail dysplasia Bilateral single transverse palmar creases Microdontia Wide intermamillary distance Hypodontia Triangular face Ectodermal dysplasia Anodontia Bilateral cleft lip and palate Hypertelorism Dystrophic toenail Hyperreflexia Small for gestational age Hypoplasia of the corpus callosum Delayed speech and language development Muscular hypotonia Progressive microcephaly Broad nasal tip Muscular hypotonia of the trunk Micropenis Absent speech Long philtrum Intellectual disability, severe Epicanthus Sparse lateral eyebrow High palate Spasticity Sensorineural hearing impairment Carious teeth Scoliosis Hearing impairment Progressive hypotrichosis Abnormality of the philtrum Cutaneous syndactyly of toes Pili torti Dystrophic fingernails Synophrys Sparse and thin eyebrow Toe syndactyly Midface retrusion Ventriculomegaly Cerebellar hypoplasia Delayed myelination Pterygium Visual impairment Abnormality of the dentition Malar flattening Syndactyly Autistic behavior Finger syndactyly Failure to thrive Recurrent respiratory infections Sparse hair Abnormality of the kidney Neurological speech impairment Protruding ear Hyperlordosis Downturned corners of mouth Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Retinopathy Feeding difficulties Cognitive impairment Depressed nasal tip Dysarthria Frontal bossing Dysphagia Intellectual disability, mild Cataract Receptive language delay Large earlobe Drooling External genital hypoplasia Open mouth Thick vermilion border Full cheeks Round face Growth hormone deficiency Sloping forehead Hypoplasia of penis Tetraparesis Lower limb spasticity Agitation Retinal detachment Central sleep apnea Spastic tetraparesis Corneal opacity Pancreatitis Widely spaced teeth Tapered finger Abnormality of cardiovascular system morphology Hypocholesterolemia Expressive language delay Hypercholesterolemia Trigonocephaly Failure to thrive in infancy Patent foramen ovale Feeding difficulties in infancy Wide mouth Infantile muscular hypotonia Sleep apnea Broad forehead Oral-pharyngeal dysphagia Stereotypy Hypermetropia Dental crowding Smooth philtrum Long face Abnormality of the cardiovascular system Hypoplasia of the maxilla Dental malocclusion Language impairment Open bite Abnormal heart morphology Gastroesophageal reflux Prominent nasal tip Poor fine motor coordination Abnormality of the pharynx Hypothyroidism Bifid uvula Abnormal renal morphology Mandibular prognathia Speech apraxia Abnormality of chromosome segregation Dysphasia Echolalia Bipolar affective disorder Poor eye contact Neonatal hypotonia Anxiety Low-set, posteriorly rotated ears Apnea High hypermetropia Inability to walk Short neck Lactic acidosis Multiple pterygia Lissencephaly Akinesia Hypoplasia of the brainstem Cystic hygroma Fetal akinesia sequence Hydranencephaly Limb joint contracture Severe hydrocephalus Decreased fetal movement Alopecia Hyperhidrosis Nail dystrophy Sparse scalp hair Abnormal dermatoglyphics Brittle hair Aplasia/Hypoplasia of the eyebrow Microretrognathia Cerebral calcification Hypoplasia of the zygomatic bone Intrauterine growth retardation Hydronephrosis Polymicrogyria Cerebral visual impairment Limb hypertonia Impaired smooth pursuit Low-set ears Flexion contracture Skeletal muscle atrophy Dandy-Walker malformation Macrocephaly Hydrocephalus Dilatation Abnormality of metabolism/homeostasis Agenesis of corpus callosum Polyhydramnios Arthrogryposis multiplex congenita Premature birth Bilateral cleft lip Hypotrichosis Poor speech Babinski sign Dilated fourth ventricle Oval face Macrogyria Cryptorchidism Talipes equinovarus Obesity Hypospadias Diabetes mellitus Abnormally large globe Gait ataxia Acidosis Difficulty walking Hypoglycemia Aggressive behavior Severe global developmental delay Delayed puberty Overlapping fingers Optic nerve hypoplasia Scaling skin Intellectual disability, moderate Anhidrosis Anteverted ears Muscle weakness Pain Motor delay Short nose Encephalopathy Postnatal growth retardation Plagiocephaly Pallor Coloboma Prominent nasal bridge Generalized tonic-clonic seizures Epileptic encephalopathy Optic disc pallor Decreased body weight Postnatal microcephaly Abnormal vitreous humor morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Macrocephaly and Hernia, related diseases and genetic alterations Hydrocephalus and Decreased fetal movement, related diseases and genetic alterations Edema and Nail dysplasia, related diseases and genetic alterations Flexion contracture and Epidermal acanthosis, related diseases and genetic alterations Cryptorchidism and Hip dysplasia, related diseases and genetic alterations

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