High palate, and Long philtrum

Diseases related with High palate and Long philtrum

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


Top matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

High match X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY


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

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Other less relevant matches:

High match PMP22-RAI1 CONTIGUOUS GENE DUPLICATION 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

High match CRISPONI SYNDROME


Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

High match PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A


Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 8 (CG8, equivalent to CGA) have mutations in the PEX26 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Cataract
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER); PBD7A

High match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

High match INTERMEDIATE NEMALINE MYOPATHY


Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.

Related symptoms:

  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about INTERMEDIATE NEMALINE MYOPATHY

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

Top 5 symptoms//phenotypes associated to High palate and Long philtrum

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
Hypertelorism Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with High palate and Long philtrum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Delayed speech and language development Thin upper lip vermilion Abnormal facial shape Strabismus Microcephaly Epicanthus Seizures

Rare Symptoms - Less than 30% cases


Absent speech Short stature Upslanted palpebral fissure Smooth philtrum Intellectual disability, moderate Wide nasal bridge Motor delay Muscular hypotonia Nystagmus Failure to thrive in infancy Failure to thrive Areflexia Wide nose Short nose Severe muscular hypotonia Depressed nasal bridge Poor speech High, narrow palate Flexion contracture Micrognathia Talipes equinovarus Narrow palpebral fissure Posteriorly rotated ears Anteverted nares High forehead Aggressive behavior Low-set ears Cataract Narrow mouth Acidosis Lactic acidosis Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Sparse hair Frontal bossing Microphthalmia Dystonia Hypoplasia of the corpus callosum Talipes Hepatomegaly Generalized neonatal hypotonia Cardiorespiratory arrest Epiphyseal stippling Jaundice Bilateral talipes equinovarus Flat occiput Large face Polymicrogyria Malignant hyperthermia Flat face Underdeveloped nasal alae Cardiomyopathy Aciduria Low-set, posteriorly rotated ears Type 1 muscle fiber predominance Multiple prenatal fractures Growth delay Hypertension Short neck Kyphoscoliosis Osteopenia Postnatal growth retardation Facial diplegia Microtia Rhizomelia Progressive microcephaly Coxa valga Vertebral segmentation defect Pierre-Robin sequence Enlarged cisterna magna Butterfly vertebrae Nemaline bodies Hypokinesia Postnatal microcephaly Polyhydramnios Infantile muscular hypotonia Tented upper lip vermilion Adducted thumb Skeletal muscle atrophy Dysphagia Limitation of joint mobility Hyporeflexia Respiratory failure Difficulty walking Myopathic facies Facial palsy Arthrogryposis multiplex congenita Ophthalmoplegia Generalized muscle weakness Premature birth Decreased fetal movement EMG: myopathic abnormalities Abnormality of the thorax Hypohidrosis Amblyopia Full cheeks Delayed puberty Sandal gap Intellectual disability, mild Severe short stature Hypothyroidism Coarse facial features Synophrys Growth hormone deficiency Downturned corners of mouth Aspiration Spina bifida Spina bifida occulta Adrenal insufficiency Hypopituitarism Myelomeningocele Panhypopituitarism Pointed chin Wide mouth Abnormal heart morphology Inability to walk Tremor Intellectual disability, severe Mandibular prognathia Macrotia Blepharophimosis Thick eyebrow Small hand Hyperactivity Waddling gait Narrow palate Self-mutilation Hand tremor Kinetic tremor Obesity Clinodactyly Peripheral neuropathy Constipation Sudden cardiac death Congenital microcephaly Low posterior hairline Frequent falls Long eyelashes Abnormality of visual evoked potentials Mild microcephaly Hypoplasia of the pons Broad finger Wide intermamillary distance Scoliosis Cognitive impairment Respiratory insufficiency Hypertonia Kyphosis Hyperhidrosis Camptodactyly of finger Optic disc pallor Astigmatism Gait ataxia Broad-based gait Joint laxity Abnormal cardiac septum morphology Abnormality of the foot Unsteady gait Distal sensory impairment Triangular face Sensory impairment Decreased nerve conduction velocity Pallor Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Ptosis Abnormal isoelectric focusing of serum transferrin



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Agenesis of corpus callosum, related diseases and genetic alterations Intrauterine growth retardation and Blue sclerae, related diseases and genetic alterations Congestive heart failure and Recurrent urinary tract infections, related diseases and genetic alterations

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