High palate, and Thin upper lip vermilion

Diseases related with High palate and Thin upper lip vermilion

In the following list you will find some of the most common rare diseases related to High palate and Thin upper lip vermilion 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

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

Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A ), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS ), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015).

PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME Is also known as trisomy 17p11.2-p12|dup(17)(p11.2p12)|trisomy 17p11.2p12|yuan-harel-lupski syndrome|17p11.2p12 microduplication syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PMP22-RAI1 CONTIGUOUS GENE DUPLICATION SYNDROME

Other less relevant matches:

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

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

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Top 5 symptoms//phenotypes associated to High palate and Thin upper lip vermilion

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with High palate and Thin upper lip vermilion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Long philtrum Hypertelorism Wide nasal bridge Seizures Delayed speech and language development Narrow mouth Strabismus Failure to thrive Motor delay Smooth philtrum Short stature Upslanted palpebral fissure

Rare Symptoms - Less than 30% cases

Epicanthus Ataxia Hyperactivity Areflexia Abnormal heart morphology Abnormality of the foot Poor speech Unsteady gait Broad-based gait Failure to thrive in infancy Delayed ability to walk Short nose Macrotia Microtia Muscular hypotonia Abnormal facial shape Microphthalmia Omphalocele Anteverted nares Prominent nose Highly arched eyebrow Wide intermamillary distance Long eyelashes Peripheral neuropathy Talipes equinovarus Ptosis Psychosis Low-set ears Dental crowding Synophrys Semilobar holoprosencephaly Bilateral cleft lip and palate Broad face Panhypopituitarism Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Decreased methionine synthase activity Alobar holoprosencephaly Cystathioninuria Depressed nasal tip Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Growth delay Micrognathia Decreased methylcobalamin Median cleft lip Bilateral cleft lip Protruding ear Brachydactyly Macrocephaly Frontal bossing Homocystinuria Hydrocephalus Midface retrusion Agenesis of corpus callosum Methylmalonic aciduria Cleft lip Broad forehead Short neck Oral cleft Iris coloboma Stomatitis Juvenile rheumatoid arthritis Dental malocclusion Hypotelorism Holoprosencephaly Flat occiput Hyperhomocystinemia Partial agenesis of the corpus callosum Hypertension Kyphoscoliosis Posteriorly rotated ears Thrombocytopenia Rheumatoid arthritis Low anterior hairline Broad hallux Incoordination Short columella Pancytopenia Unilateral cryptorchidism Curly eyelashes Anemia Abnormality of the skin Single transverse palmar crease Aciduria Neutropenia Acidosis Arthritis Feeding difficulties in infancy Developmental regression Lethargy Small for gestational age Skin rash Underdeveloped nasal alae Hirsutism Decreased adenosylcobalamin Pierre-Robin sequence Osteopenia Intellectual disability, moderate Low-set, posteriorly rotated ears Postnatal growth retardation Megaloblastic bone marrow Rhizomelia Progressive microcephaly Coxa valga Vertebral segmentation defect Enlarged cisterna magna Broad finger Butterfly vertebrae Methylmalonic acidemia Abnormal isoelectric focusing of serum transferrin Megaloblastic anemia Cryptorchidism Neonatal hypotonia Prominent nasal bridge Narrow chest Macrocytic anemia Thick eyebrow Glossitis Eyelid coloboma Congenital microcephaly Chronic constipation Abnormal cardiac septum morphology Distal sensory impairment Wide nose Triangular face Sensory impairment Decreased nerve conduction velocity Decreased number of peripheral myelinated nerve fibers Onion bulb formation Syringomyelia Demyelinating peripheral neuropathy Gait ataxia Scoliosis Muscle weakness Cognitive impairment Flexion contracture Dysarthria Abnormality of the skeletal system Respiratory insufficiency Pes planus Difficulty walking Camptodactyly Joint laxity Constipation Arthrogryposis multiplex congenita Short attention span Intellectual disability, severe Anxiety Aggressive behavior Flat face Open mouth Drooling Delayed gross motor development Schizophrenia Agitation Restlessness Long ear Narrow palate Intellectual disability, mild Absent speech Brachycephaly Autism EEG abnormality Attention deficit hyperactivity disorder Dolichocephaly Long face Cafe-au-lait spot Pointed chin Distal muscle weakness Arachnodactyly Hypoplasia of the pons Upper eyelid coloboma Abnormality of the hair Anophthalmia Anteriorly placed anus Anal stenosis Abnormal hair pattern Bifid nasal tip Vaginal atresia Broad columella Nasolacrimal duct obstruction Cryptophthalmos Amenorrhea Ablepharon Nystagmus Pallor Astigmatism Optic disc pallor Low posterior hairline Frequent falls Amblyopia Abnormality of visual evoked potentials Mild microcephaly Primary amenorrhea Renal agenesis Dysmetria Long nose Peripheral axonal neuropathy Inability to walk Sensory neuropathy Hip dysplasia Joint contracture of the hand Sandal gap Poor head control Impaired vibratory sensation Sensory axonal neuropathy Myopathic facies Narrow nasal bridge Ectodermal dysplasia Distal arthrogryposis Impaired proprioception Sensory ataxia Impaired tactile sensation High forehead Coloboma Short philtrum Corneal opacity Hypoplasia of the maxilla Broad nasal tip Cystathioninemia


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