High palate, and Thick lower lip vermilion

Diseases related with High palate and Thick lower lip vermilion

In the following list you will find some of the most common rare diseases related to High palate and Thick lower lip vermilion that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency is a rare, hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD DEFICIENCY Is also known as scar23|spinocerebellar ataxia autosomal recessive type 23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO TUD 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

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.

LIPOID PROTEINOSIS Is also known as lipoid proteinosis|urbach-wiethe disease|hyalinosis cutis et mucosae

Related symptoms:

  • Intellectual disability
  • Seizures
  • High palate
  • Dysphagia
  • Respiratory distress


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIPOID PROTEINOSIS

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE; NDHSAL

Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY

Gabriele-de Vries syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. Affected individuals may also have a variety of congenital abnormalities (summary by Gabriele et al., 2017).

GABRIELE-DE VRIES SYNDROME Is also known as yy1 haploinsufficiency syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Micrognathia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GABRIELE-DE VRIES SYNDROME

Early infantile epileptic encephalopathy-2 is an X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. There is some phenotypic overlap with Rett syndrome (OMIM ), but EIEE2 is considered to be a distinct entity (summary by Fehr et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as issx2|cdkl5 deficiency disorder|infantile spasm syndrome, x-linked 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CDKL5-RELATED EPILEPTIC ENCEPHALOPATHY

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.

X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE Is also known as snyder-robinson syndrome|snyder-robinson mental retardation syndrome|srs

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, SNYDER TYPE

High match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Thick lower lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape 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 High palate and Thick lower lip vermilion. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Absent speech

Uncommon Symptoms - Between 30% and 50% cases

Anteverted nares Gastroesophageal reflux Hypertelorism Short stature Cognitive impairment Downslanted palpebral fissures Deeply set eye Strabismus Autistic behavior Cryptorchidism Aggressive behavior Joint laxity Bulbous nose High, narrow palate Sparse eyebrow Abnormality of the pinna Generalized myoclonic seizures Thick vermilion border Low-set ears Broad forehead Dystonia Delayed speech and language development Ataxia Constipation Macrocephaly Scoliosis Short philtrum Ptosis Prominent forehead Cerebral atrophy Feeding difficulties Muscular hypotonia Depressed nasal bridge Gait ataxia Microcephaly Narrow mouth

Rare Symptoms - Less than 30% cases

Visual impairment Tremor Cerebral visual impairment Ventriculomegaly Encephalopathy Poor eye contact EEG abnormality Dysarthria Long face Cerebellar atrophy Facial asymmetry Intellectual disability, profound Camptodactyly Kyphoscoliosis Myoclonus Everted lower lip vermilion Narrow forehead Long fingers Delayed myelination Hypotelorism Intellectual disability, mild Posteriorly rotated ears Growth delay Osteoporosis Nystagmus Pointed chin Unsteady gait High myopia Long philtrum Palpebral edema Abnormality of the cerebral white matter Hyperactivity Anxiety Wide mouth Gait disturbance Brachycephaly Epicanthus Alopecia Memory impairment Micrognathia Self-injurious behavior Macrotia Stereotypy Behavioral abnormality Pes planus Postnatal microcephaly Developmental regression Pectus carinatum Prominent occiput Generalized osteoporosis Difficulty walking Mandibular prognathia Abnormality of the vasculature Pectus excavatum Global brain atrophy Talipes equinovarus Widow's peak Hyperactive deep tendon reflexes Myopia Prominent metopic ridge Cleft palate Hand clenching Interrupted aortic arch Delayed CNS myelination Coarse facial features Cerebellar vermis hypoplasia Aplasia/Hypoplasia of the corpus callosum Microphthalmia Developmental stagnation Mood swings Infantile encephalopathy Multifocal seizures Thoracolumbar kyphoscoliosis Upper eyelid edema EEG with generalized slow activity Hyperreflexia Wide nasal bridge Ventricular septal defect Hypoplasia of the corpus callosum Polyhydramnios Wide anterior fontanel Muscular hypotonia of the trunk Cleft lip Abnormal lip morphology Abnormal cardiac septum morphology Camptodactyly of finger Irregular dentition Sepsis Urethral stenosis Brain atrophy Dandy-Walker malformation Interphalangeal joint contracture of finger Eclabion Intellectual disability, moderate Abnormality of the sternum Prominent nasal bridge Sparse hair Bronchiectasis Slender finger Decreased body weight Epileptic spasms Sparse scalp hair Overgrowth Single transverse palmar crease Hirsutism Bruising susceptibility Joint hypermobility Ichthyosis Umbilical hernia Gingival overgrowth Slender build Hyperextensibility of the finger joints Small earlobe Long hallux Narrow palm Focal motor seizures Long palm Asymmetry of the ears Brachydactyly Dilatation Hernia Hypogonadism Disproportionate tall stature Sparse and thin eyebrow Synophrys Premature ovarian insufficiency Abnormality of movement Retrognathia Smooth philtrum Arachnodactyly Recurrent fractures Postural instability Prolonged bleeding time Bifid uvula High pitched voice Webbed neck Wide intermamillary distance Broad-based gait Decreased muscle mass Tall stature Dental crowding Aortic aneurysm Increased susceptibility to fractures Redundant skin Hyperpigmentation of the skin Narrow face Spontaneous abortion Hyperextensible skin Cutis laxa Hypergonadotropic hypogonadism Nasal speech Bruxism Hypothyroidism Hyperventilation Patchy alopecia Oral-pharyngeal dysphagia Acne Fragile skin Alopecia of scalp Pustule Delusions Microglossia Verrucae Nasal polyposis Abnormal oral mucosa morphology Paranoia Abnormality of the gingiva Hoarse voice Hoarse cry Tongue nodules Bilateral intracranial calcifications Midface retrusion Osteopenia Telecanthus Thick eyebrow Dyskinesia Delayed ability to walk Nasogastric tube feeding Recurrent hand flapping Oligodontia Hallucinations Cerebellar hypoplasia Obsessive-compulsive behavior Prominent supraorbital ridges Large hands Failure to thrive Spasticity Hypertonia Autism Hyperlordosis Attention deficit hyperactivity disorder Abnormal cerebellum morphology Underdeveloped nasal alae Short palpebral fissure Dysphagia Thickened skin Respiratory distress Recurrent respiratory infections Hyperkeratosis Carcinoma Abnormality of the nervous system Respiratory tract infection Scarring Papule Abnormal blistering of the skin Cerebral calcification Subcutaneous nodule Edema Cerebral cortical atrophy Infantile spasms Small hand Waddling gait Esophageal atresia Periorbital fullness Lacrimal duct stenosis Mild intrauterine growth retardation Intellectual disability, severe Blindness Respiratory failure Severe global developmental delay Short palm Inability to walk Short foot Craniosynostosis Tapered finger Sleep disturbance Focal-onset seizure Epileptic encephalopathy Sloping forehead Apraxia Hypsarrhythmia Tetraparesis Progressive microcephaly Spastic tetraparesis Loss of consciousness Gliosis Malar flattening Neonatal hypotonia Impaired social interactions Protruding ear Abnormal pyramidal sign Dysmetria Wide nose Broad nasal tip Intention tremor Depressed nasal ridge Infantile muscular hypotonia Brisk reflexes Large forehead Abnormal cortical gyration Positive Romberg sign Abnormality of the dentition Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Segmental myoclonic seizures Intrauterine growth retardation Abnormality of the skeletal system Infra-orbital fold


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