Abnormal facial shape, and Distal sensory impairment

Diseases related with Abnormal facial shape and Distal sensory impairment

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


Top matches:

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

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55


Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

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Other less relevant matches:

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 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 SPINOCEREBELLAR ATAXIA TYPE 13


Spinocerebellar ataxia type 13 (SCA13) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by onset in childhood marked by delayed motor and cognitive development followed by mild progression of cerebellar ataxia.

SPINOCEREBELLAR ATAXIA TYPE 13 Is also known as sca13

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 13

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B


Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

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 NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Distal sensory impairment

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Distal muscle weakness Common - Between 50% and 80% cases
Sensory impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Distal sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Motor delay Intellectual disability, mild Skeletal muscle atrophy Intellectual disability Generalized hypotonia Hyperreflexia Gait ataxia Difficulty walking High palate Hearing impairment Delayed speech and language development Hyporeflexia

Rare Symptoms - Less than 30% cases


Myopathic facies Respiratory distress Proximal muscle weakness Axonal degeneration Postural instability Depressed nasal bridge Dysarthria Narrow face Progressive distal muscle weakness Dysphagia Foot dorsiflexor weakness Peripheral axonal neuropathy Abnormality of the periventricular white matter Scoliosis Flexion contracture Pes cavus Limb ataxia Frequent falls Difficulty running Falls Long face Myalgia Kyphoscoliosis Paralysis Increased variability in muscle fiber diameter Pectus excavatum Arthrogryposis multiplex congenita Depressivity Myopathy Tremor Gait disturbance Growth delay Paraplegia Abnormality of the cerebral white matter Spastic paraplegia Hypertonia Strabismus Areflexia Upslanted palpebral fissure Unsteady gait Decreased nerve conduction velocity Onion bulb formation Nystagmus Spasticity Cognitive impairment Optic atrophy Urinary incontinence Babinski sign Respiratory insufficiency Centrally nucleated skeletal muscle fibers Thoracic kyphosis Spastic gait Postural tremor Neck muscle weakness Impaired vibratory sensation Toe walking Lower limb hyperreflexia Loss of speech Difficulty climbing stairs Tetraplegia Mild microcephaly Corpus callosum atrophy Absent Achilles reflex Urinary retention Decreased muscle mass Congenital muscular dystrophy Primitive reflex Facial palsy Pseudobulbar paralysis Pollakisuria Narrow chest Limb muscle weakness Easy fatigability Distal lower limb amyotrophy Bradykinesia Myokymia Muscular dystrophy Optic disc pallor Clumsiness Torticollis Slender build Urinary urgency Distal lower limb muscle weakness Hyperactive deep tendon reflexes Hyperlordosis Cerebral cortical atrophy Titubation Impaired distal vibration sensation Jerky ocular pursuit movements Upgaze palsy Impaired visuospatial constructive cognition Microcephaly Cataract Nemaline bodies Facial diplegia Absent speech Hyperreflexia in upper limbs Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Facial paralysis Facial asymmetry Paresthesia Bifid uvula Hypotelorism Hoarse voice Respiratory failure Kyphosis Narrow palpebral fissure Scapular winging Chronic pain Blepharophimosis Waddling gait Dysesthesia Generalized muscle weakness Weak voice Neuritis Peripheral axonal degeneration Cutis gyrata of scalp Congestive heart failure Radial head subluxation Brachial plexus neuropathy Finger syndactyly Rigidity Muscular hypotonia Ptosis Pes planus Knee flexion contracture Muscle stiffness Impaired vibration sensation at ankles Retrognathia Pectus carinatum Progressive muscle weakness Open mouth Cleft palate Pain Low-set ears Deeply set eye Lumbar hyperlordosis Epicanthus Fatigue Abnormality of the skeletal system Decreased fetal movement Dyspnea Edema Syndactyly Hyperhidrosis Narrow mouth Impaired continence Pigmentary retinopathy Myoclonus Poor fine motor coordination Lower limb spasticity Clonus Fasciculations Paraparesis Spastic paraparesis Steppage gait Scotoma Optic neuropathy Central scotoma Upper limb muscle weakness Decreased sensory nerve conduction velocity Ophthalmoplegia Axonal regeneration Focal white matter lesions Tibialis muscle weakness Sensorineural hearing impairment Cerebral atrophy Hyperkeratosis Coarse facial features Abnormality of the eye Papule Dry skin Lower limb muscle weakness Abnormal pyramidal sign Thick vermilion border Poor speech Failure to thrive Feeding difficulties Downslanted palpebral fissures Long philtrum Abnormal heart morphology Constipation Thin upper lip vermilion Joint laxity Abnormal cardiac septum morphology Abnormality of the foot Smooth philtrum Reduced visual acuity Wide nose Triangular face Broad-based gait Failure to thrive in infancy Decreased number of peripheral myelinated nerve fibers Delayed ability to walk Syringomyelia Chronic constipation Demyelinating peripheral neuropathy Talipes equinovarus Hypoplasia of the corpus callosum Vertigo Polyneuropathy Cerebellar atrophy Multiple lipomas Distal amyotrophy Inability to walk Small hand Amenorrhea Intention tremor Primary amenorrhea Truncal ataxia Schizophrenia Dysdiadochokinesis Gowers sign Hyperthyroidism Retinopathy Poor coordination Mitochondrial myopathy Prolactin excess Thick hair Speech articulation difficulties Enlarged interhemispheric fissure Sensory neuropathy Arrhythmia Peripheral demyelination Hand muscle atrophy Seizures Dysmetria Pallor Bilateral sensorineural hearing impairment Angiokeratoma Cardiomegaly Thick lower lip vermilion Subcutaneous nodule Telangiectasia Lymphedema Aminoaciduria Opacification of the corneal stroma Tinnitus Telangiectasia of the skin Motor polyneuropathy Angiokeratoma corporis diffusum Anxiety Lip telangiectasia Increased urinary O-linked sialopeptides Distal sensory impairment of all modalities White mater abnormalities in the posterior periventricular region Telangiectasia of the oral mucosa Ataxia Micrognathia Elevated serum creatine phosphokinase Delayed skeletal maturation Cerebellar hypoplasia Mandibular prognathia Shoulder girdle muscle atrophy



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Feeding difficulties and Joint hyperflexibility, related diseases and genetic alterations Macrocephaly and Abnormal heart morphology, related diseases and genetic alterations Brachydactyly and Progressive hearing impairment, related diseases and genetic alterations Edema and Dry skin, related diseases and genetic alterations Muscle weakness and Choreoathetosis, related diseases and genetic alterations

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