High palate, and Broad nasal tip

Diseases related with High palate and Broad nasal tip

In the following list you will find some of the most common rare diseases related to High palate and Broad nasal tip that can help you solving undiagnosed cases.

Top matches:

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about BAINBRIDGE-ROPERS SYNDROME; BRPS

Other less relevant matches:

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

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

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Autosomal recessive cutis laxa type IIC (ARCL2C) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC; ARCL2C

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME Is also known as sbidds

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-BRACHYDACTYLY-OBESITY-GLOBAL DEVELOPMENTAL DELAY SYNDROME

MRD57 is an autosomal dominant neurodevelopmental disorder with a highly variable phenotype. Most affected individuals have delayed psychomotor development apparent in infancy or early childhood, language delay, and behavioral abnormalities. Additional features may include hypotonia, feeding problems, gastrointestinal issues, and dysmorphic facial features (summary by Reijnders et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 57; MRD57

Top 5 symptoms//phenotypes associated to High palate and Broad nasal tip

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

Other less frequent symptoms

Patients with High palate and Broad nasal tip. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development Wide nasal bridge Low-set ears Abnormal facial shape Short stature Pointed chin Downslanted palpebral fissures Strabismus Pes planus Long philtrum Retrognathia Anteverted nares Narrow mouth Hyperactivity Flexion contracture Growth delay Thin upper lip vermilion Feeding difficulties Microcephaly Cryptorchidism Epicanthus Scoliosis Ptosis

Rare Symptoms - Less than 30% cases

Cleft palate Delayed ability to walk Disproportionate tall stature Postnatal growth retardation Short chin Dental crowding Highly arched eyebrow Bulbous nose Severe global developmental delay Prominent nasal bridge Midface retrusion Neonatal hypotonia Brachydactyly Hernia Decreased body weight Triangular face Synophrys Telecanthus Posteriorly rotated ears Intrauterine growth retardation Depressed nasal bridge Autistic behavior High, narrow palate Deeply set eye Constipation Edema Nystagmus Abnormality of the skeletal system Laryngomalacia Sacral dimple Narrow forehead Upslanted palpebral fissure Long face Hypoplasia of the corpus callosum Corneal opacity Coloboma Macrocephaly Frontal bossing Clinodactyly Microphthalmia Prominent forehead Short philtrum Anxiety Aggressive behavior Craniosynostosis Broad columella Anophthalmia Primary amenorrhea Hypoplasia of the maxilla Myopia Narrow naris Biventricular hypertrophy Macrodontia Deep palmar crease Hypoplastic heart Hearing impairment Cataract Visual impairment Atrial septal defect Wide nasal base Hypospadias Inguinal hernia Hypogonadism Micropenis Cleft lip Muscular dystrophy Delayed puberty Iris coloboma Dental malocclusion Severe intrauterine growth retardation Malar rash Hypoplasia of the musculature Aortic regurgitation Kyphoscoliosis Talipes equinovarus Joint laxity Hip dysplasia Decreased head circumference Convex nasal ridge Mitral valve prolapse Knee flexion contracture Cutis laxa Hand clenching Bilateral cryptorchidism Nevus flammeus of the forehead Choanal atresia Right bundle branch block Bundle branch block Reduced subcutaneous adipose tissue Entropion Pneumothorax Tricuspid regurgitation Reduced number of teeth Encephalocele Blepharophimosis Short palpebral fissure Short metatarsal Underdeveloped supraorbital ridges Pseudohypoparathyroidism Infra-orbital crease Frontal hirsutism Diarrhea Kyphosis Autism Attention deficit hyperactivity disorder Delayed myelination Microtia Joint hypermobility Otitis media Hypertrichosis Recurrent otitis media Hoarse voice Obsessive-compulsive behavior Toe walking Hyperventilation Microtia, first degree Short metacarpal Short foot Hypogonadotrophic hypogonadism Diastema Scrotal hypoplasia Anosmia Ectodermal dysplasia Limb-girdle muscular dystrophy Preauricular pit Agenesis of permanent teeth Hypoplastic labia majora Hyposmia Lacrimation abnormality Hypoplasia of teeth Lacrimal duct stenosis Thin vermilion border Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Absent paranasal sinuses High forehead Short neck Malar flattening Obesity Astigmatism Hemivertebrae Abnormal cardiac septum morphology Broad-based gait Tented upper lip vermilion Depressivity Babinski sign Pneumonia Hypoglycemia Clinodactyly of the 5th finger Feeding difficulties in infancy Dolichocephaly Poor speech Thick eyebrow Dysphonia Dysphagia Spinal muscular atrophy Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Ablepharon Ataxia Cryptophthalmos Dysarthria Intellectual disability, severe Skeletal muscle atrophy Upper eyelid coloboma Everted lower lip vermilion Absent speech Failure to thrive Scaphocephaly Wide mouth Microretrognathia Finger clinodactyly Arachnodactyly Recurrent pneumonia Inability to walk Stereotypy Mandibular prognathia Open mouth Tall stature Trigonocephaly Hypoplasia of the brainstem Hepatosplenomegaly Severe postnatal growth retardation Ulnar deviation of the hand Micrognathia Muscle weakness Muscular hypotonia Tremor Cerebellar atrophy Renal agenesis Hypoplastic hippocampus Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Segmental myoclonic seizures Large forehead Anal stenosis Anteriorly placed anus Abnormality of the hair Omphalocele Brachycephaly Abnormality of the pinna Short nose Amenorrhea Smooth philtrum Small hand Abnormal cortical gyration Palpebral edema Intellectual disability, mild Broad forehead Nasolacrimal duct obstruction Cerebellar hypoplasia Cerebral cortical atrophy Gait ataxia Gastroesophageal reflux Vaginal atresia Protruding ear Bifid nasal tip Abnormal pyramidal sign Dysmetria Brisk reflexes Unsteady gait Abnormal hair pattern Wide nose Generalized myoclonic seizures Memory impairment Intention tremor Thick lower lip vermilion Depressed nasal ridge Eyelid coloboma Infantile muscular hypotonia Tall chin


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