High palate, and Intellectual disability, mild

Diseases related with High palate and Intellectual disability, mild

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.

FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE Is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • High palate
  • Macrocephaly
  • Ventriculomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL SCAPHOCEPHALY SYNDROME, MCGILLIVRAY TYPE

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Other less relevant matches:

INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability-loss of expressive language-facial dysmorphism syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-EXPRESSIVE APHASIA-FACIAL DYSMORPHISM SYNDROME

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 91; MRX91

BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

OTOFACIOCERVICAL SYNDROME Is also known as fara-chlupackova syndrome|ofc1|ofc syndrome|ofc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about OTOFACIOCERVICAL SYNDROME

High match PERRAULT SYNDROME

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

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

Top 5 symptoms//phenotypes associated to High palate and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Long face Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Motor delay Low-set ears Hypertelorism Abnormal facial shape Hearing impairment Macrocephaly Epicanthus Protruding ear Seizures Ptosis Dysarthria Scoliosis

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Depressed nasal bridge Long philtrum Synophrys Scapular winging Conductive hearing impairment Facial palsy Neonatal hypotonia Autistic behavior Narrow mouth Ophthalmoplegia Brachycephaly Autism Kyphosis Short neck Anteverted nares Delayed speech and language development Pointed chin Bifid uvula Absent speech Delayed puberty Cognitive impairment Bilateral ptosis Areflexia Nystagmus Dolichocephaly Cerebellar hypoplasia Ataxia Pes cavus Talipes equinovarus Cerebellar atrophy Hypoplasia of the maxilla Mandibular prognathia Gait ataxia Dysmetria Dyspnea Peripheral axonal neuropathy Sensory neuropathy Retrognathia Myopathy Difficulty walking Cardiomyopathy Polyneuropathy Respiratory insufficiency Skeletal muscle atrophy Proximal muscle weakness Congestive heart failure Gonadal dysgenesis Amenorrhea Titubation Severe sensorineural hearing impairment Spastic diplegia Increased circulating gonadotropin level Retinal atrophy Amelogenesis imperfecta Decreased serum testosterone level Hammertoe Feeding difficulties in infancy Progressive peripheral neuropathy Secondary amenorrhea Limited extraocular movements Internuclear ophthalmoplegia Hyperkinesis Muscle weakness Flexion contracture Feeding difficulties Sensorimotor neuropathy Primary amenorrhea Narrow nasal tip EMG: myopathic abnormalities Hyperlordosis Memory impairment Cerebral cortical atrophy Gastroesophageal reflux Short ear Deeply set eye Aggressive behavior Abnormal pyramidal sign Broad forehead Unsteady gait Bulbous nose Wide nose Broad nasal tip Generalized myoclonic seizures Intention tremor Constipation Thick lower lip vermilion Depressed nasal ridge Mesiodens Infantile muscular hypotonia Brisk reflexes Palpebral edema Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Hyperactivity Edema Distal muscle weakness Difficulty climbing stairs Generalized muscle weakness Waddling gait Left ventricular hypertrophy Progressive muscle weakness Respiratory insufficiency due to muscle weakness External ophthalmoplegia Poor motor coordination Dysphonia Congenital contracture Gowers sign Ophthalmoparesis Generalized amyotrophy Long fingers Tremor Exertional dyspnea Abnormal heart valve morphology Centrally nucleated skeletal muscle fibers Hypoplastic hippocampus Hippocampal atrophy Hip contracture Difficulty running Facial diplegia Type 1 muscle fiber predominance Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Strabismus Infertility Abnormality of the antihelix Mental deterioration Aspiration Shallow orbits Broad hallux phalanx Craniofacial dysostosis Wide nasal bridge Severe short stature Hypothyroidism Coarse facial features Intellectual disability, moderate Growth hormone deficiency Spina bifida Open bite Spina bifida occulta Adrenal insufficiency Hypopituitarism Myelomeningocele Panhypopituitarism Thin upper lip vermilion EEG abnormality Attention deficit hyperactivity disorder Dental crowding Cafe-au-lait spot Scaphocephaly Trigonocephaly Muscular hypotonia Growth abnormality Frontal bossing Intellectual disability, severe Pectus excavatum Prominent forehead Pectus carinatum Prominent nasal bridge Narrow chest Arachnodactyly Narrow face Nasal speech Toe syndactyly Abnormality of the sternum Abnormality of the musculature Long foot Slender build Ventriculomegaly Midface retrusion Upslanted palpebral fissure Proptosis High forehead Craniosynostosis Narrow palate Short nose Abnormality of the nervous system Abnormality of the clavicle Neurological speech impairment Facial asymmetry Full cheeks Preauricular skin tag Abnormal dermatoglyphics Renal hypoplasia/aplasia Atresia of the external auditory canal Preauricular pit Narrow nose Down-sloping shoulders Delayed skeletal maturation Lacrimal duct stenosis Long neck Unilateral facial palsy Cholesteatoma Sensorineural hearing impairment Spasticity Peripheral neuropathy Hyporeflexia Rod-cone dystrophy Osteoporosis Macrotia Hypertonia Obesity Cleft palate Clinodactyly Severe global developmental delay Small hand Short foot Low posterior hairline Severe muscular hypotonia Cubitus valgus Short 5th finger Macrodontia Microcephaly Anemia Abnormality of the skeletal system Abnormality of the pinna Thick eyebrow Highly arched eyebrow Single transverse palmar crease Long eyelashes Brittle hair Flat occiput Increased number of teeth Bilateral conductive hearing impairment Hyperreflexia Segmental myoclonic seizures


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