Cleft palate, and Distal sensory impairment

Diseases related with Cleft palate and Distal sensory impairment

In the following list you will find some of the most common rare diseases related to Cleft palate and Distal sensory impairment that can help you solving undiagnosed cases.


Top matches:

Low match NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD


Hereditary neuropathy with or without age-related macular degeneration is a complex autosomal dominant syndrome characterized by a variable peripheral neuropathy resembling demyelinating Charcot-Marie-Tooth disease (see, e.g., CMT1A, {118220}) and/or axonal CMT (see, e.g., CMT2A1, {118210}) with sensorimotor impairment mainly of the distal lower extremities, or spinal CMT, also known as distal hereditary motor neuropathy (see, e.g., HMN1; {182960}) with intact sensation. Age-related macular degeneration, if present, shows very late onset in the seventies or eighties. In addition, some patients may show hyperelasticity of the skin or joints. The age at onset of neuropathy and severity of the disorder is highly variable, even within families (summary by Auer-Grumbach et al., 2011).For a phenotypic description and a discussion of genetic heterogeneity of age-related macular degeneration, see {603075}.

Related symptoms:

  • Muscle weakness
  • High palate
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Abnormality of the skeletal system


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION; HNARMD

Low match PERRAULT SYNDROME 5; PRLTS5


Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about PERRAULT SYNDROME 5; PRLTS5

Low 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

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E

Low match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Low match MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME


MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME Is also known as mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-CEREBELLAR ATAXIA-PIGMENTARY RETINOPATHY SYNDROME

Low match AMYOTROPHY, HEREDITARY NEURALGIC; HNA


Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant form of recurrent focal neuropathy characterized clinically by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm.

AMYOTROPHY, HEREDITARY NEURALGIC; HNA Is also known as neuritis with brachial predilection|napb|amyotrophy, hereditary neuralgic, with predilection for brachial plexus|brachial plexus neuropathy, hereditary

Related symptoms:

  • Short stature
  • Muscle weakness
  • Abnormal facial shape
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHY, HEREDITARY NEURALGIC; HNA

Low match NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C


HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Distal sensory impairment

Symptoms // Phenotype % cases
Hyporeflexia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Sensory impairment Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Areflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Distal sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Pes cavus Distal muscle weakness High palate Global developmental delay Skeletal muscle atrophy Scoliosis Generalized hypotonia Delayed speech and language development Hearing impairment Distal amyotrophy Short stature Motor delay Flexion contracture Gait ataxia Upslanted palpebral fissure Intellectual disability Difficulty walking Respiratory distress Paralysis Decreased nerve conduction velocity Seizures Ataxia

Rare Symptoms - Less than 30% cases


Nystagmus Micrognathia Abnormality of the skeletal system Anteverted nares Failure to thrive in infancy Peripheral axonal neuropathy Tented upper lip vermilion Ptosis Myopathy Demyelinating peripheral neuropathy Peripheral demyelination Hoarse voice Sensory neuropathy Dysmetria Steppage gait Pallor Muscular hypotonia Cerebellar hypoplasia Gait disturbance Tremor Depressivity Deeply set eye Depressed nasal bridge Anxiety Cerebellar atrophy Amenorrhea Primary amenorrhea Constipation Failure to thrive Strabismus Midface retrusion Mandibular prognathia Myalgia Narrow mouth Dysesthesia Scapular winging Axonal degeneration Poor coordination Facial paralysis Chronic pain Neuritis Weak voice Narrow palpebral fissure Fatigue Hyperthyroidism Peripheral axonal degeneration Cutis gyrata of scalp Multiple lipomas Epicanthus Mitochondrial myopathy Narrow face Hyperhidrosis Low-set ears Pain Rigidity Blepharophimosis Syndactyly Finger syndactyly Facial asymmetry Abnormal facial shape Prolactin excess Paresthesia Postural instability Enlarged interhemispheric fissure Edema Bifid uvula Hypotelorism Thick hair Speech articulation difficulties Microcephaly Radial head subluxation Hypertriglyceridemia Broad forehead Neurological speech impairment Synophrys Toe syndactyly Delayed puberty Cleft upper lip Retinal detachment Sleep disturbance Abnormal localization of kidney Microcornea Decreased fetal movement Taurodontia Attention deficit hyperactivity disorder Open mouth Abnormality of the ureter Abnormal form of the vertebral bodies Stereotypy Hypercholesterolemia Aplasia/Hypoplasia of the corpus callosum Renal hypoplasia/aplasia Precocious puberty Hand polydactyly Chronic otitis media Self-injurious behavior Short philtrum Joint stiffness Brachial plexus neuropathy Abnormality of cardiovascular system morphology Arrhythmia Proximal muscle weakness Hand muscle atrophy Impaired pain sensation Hypertelorism Brachydactyly Wide nasal bridge Myopia Frontal bossing Ventriculomegaly Short nose Obesity Feeding difficulties in infancy Clinodactyly of the 5th finger Brachycephaly Increased variability in muscle fiber diameter Hypothyroidism Abnormal tracheobronchial morphology Gastroesophageal reflux Hyperacusis Delayed eruption of primary teeth Large face Pes planus EEG abnormality Conductive hearing impairment Myopathic facies Absent Achilles reflex Gowers sign Syringomyelia Poor speech Smooth philtrum Unsteady gait Wide nose Triangular face Broad-based gait Decreased number of peripheral myelinated nerve fibers Onion bulb formation Delayed ability to walk Chronic constipation Abnormal cardiac septum morphology Hyperkeratosis Facial palsy Split hand Foot dorsiflexor weakness Abnormality of the hand Congenital contracture Hammertoe Impaired vibratory sensation Decreased motor nerve conduction velocity Nemaline bodies Abnormality of the foot Joint laxity Increased connective tissue Increased serum lactate Joint hypermobility Macular degeneration Hyperextensible skin Drusen Constrictive median neuropathy Choroidal neovascularization Decreased patellar reflex Sensorineural hearing impairment Ophthalmoplegia Hypergonadotropic hypogonadism Thin upper lip vermilion Abnormality of mitochondrial metabolism Sensory axonal neuropathy Gonadal dysgenesis Elevated circulating luteinizing hormone level Increased serum pyruvate Positive Romberg sign Feeding difficulties Downslanted palpebral fissures Long philtrum Abnormal heart morphology Distal lower limb amyotrophy Ulnar claw Dysdiadochokinesis Kyphoscoliosis Inverted nipples Cone dysfunction syndrome Pontocerebellar atrophy Trophic changes related to pain Growth delay Intellectual disability, mild Pectus excavatum Elevated serum creatine phosphokinase Delayed skeletal maturation Retinopathy Narrow palate Long face Falls Inability to walk Small hand Pigmentary retinopathy Intention tremor Frequent falls Limb ataxia Truncal ataxia Schizophrenia Atrophy/Degeneration affecting the brainstem Sensorimotor neuropathy Hypotrophy of the small hand muscles Respiratory failure Spasticity Visual impairment Hyperreflexia Optic atrophy Dysphagia Hypertonia Visual loss Babinski sign Myoclonus Acidosis Exotropia Polyhydramnios Irritability Severe global developmental delay Abnormality of the cerebral white matter Lactic acidosis Bulbous nose Tapered finger Polyneuropathy Progressive visual loss Narrow forehead Corticospinal tract hypoplasia



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