Macrocephaly, and Distal sensory impairment

Diseases related with Macrocephaly and Distal sensory impairment

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


Top matches:

Medium match GIANT AXONAL NEUROPATHY


Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Medium match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3


Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Medium match ATAXIA-PANCYTOPENIA SYNDROME


Ataxia-pancytopenia syndrome is a rare genetic disease characterized by cerebellar ataxia, cytopenias and predisposition to bone marrow failure and myeloid leukaemia. Neurologic features variably include slowly progressive cerebellar ataxia or balance impairment with cerebellar atrophy and periventricular white matter T2 hyperintensities in brain MRI, horizontal and vertical nystagmus, dysmetria, dysarthria, pyramidal tract signs and reduced nerve conduction velocity. Hematological abnormalities are variable and may be intermittent and include cytopenias of all cell lineages, immunodeficiency, myelodysplasia and acute myeloid leukemia.

ATAXIA-PANCYTOPENIA SYNDROME Is also known as myelocerebellar disorder

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ATAXIA-PANCYTOPENIA SYNDROME

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Other less relevant matches:

Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1


Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Low match NON-PROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY


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

Low match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Low match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Low match PHELAN-MCDERMID SYNDROME; PHMDS


Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Low match DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME


Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.

DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME Is also known as hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Peripheral neuropathy
  • Macrocephaly
  • Optic atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-ENCEPHALONEUROPATHY-OBESITY-VALVULOPATHY SYNDROME

Low match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Top 5 symptoms//phenotypes associated to Macrocephaly and Distal sensory impairment

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Autistic behavior Strabismus Pain Gait disturbance Unsteady gait Short stature Pes planus Deeply set eye Hyperactivity Ataxia Scoliosis Dysarthria Gastroesophageal reflux Peripheral neuropathy Obesity Nystagmus Areflexia Ptosis Palpebral edema Brisk reflexes Malar flattening Pointed chin Bulbous nose Neonatal hypotonia Cognitive impairment Aggressive behavior Umbilical hernia Gait ataxia Intellectual disability, mild Anteverted nares Delayed speech and language development High palate Hypohidrosis Hyporeflexia Clinodactyly of the 5th finger Feeding difficulties Babinski sign Polyneuropathy Cerebellar atrophy Peripheral axonal neuropathy Sleep disturbance

Rare Symptoms - Less than 30% cases


Hydronephrosis Low-set ears Large hands Hypoplastic toenails Impaired pain sensation Constipation Long philtrum Downslanted palpebral fissures Arachnoid cyst Bruxism Abnormal facial shape Sacral dimple Hypertelorism Neuropathic arthropathy Thick vermilion border Arthropathy Broad-based gait Cerebellar cortical atrophy Multicystic kidney dysplasia Short chin Hair-pulling Recurrent pyelonephritis Recurrent infections Ventriculomegaly Recurrent skin infections Dental crowding Accelerated skeletal maturation Midface retrusion Agenesis of corpus callosum Dolichocephaly Hypermetropia Immunodeficiency Wide nasal bridge Nausea and vomiting Epicanthus Atrial septal defect Thick eyebrow Short neck Behavioral abnormality Autism Lymphedema Coarse facial features Full cheeks Sparse hair Broad nasal tip Wide nose Vesicoureteral reflux Broad forehead Dental malocclusion Protruding ear Renal dysplasia Long eyelashes Macrotia Sensorineural hearing impairment Muscular hypotonia Paraparesis Sensory neuropathy Sensory impairment Curly hair Decreased nerve conduction velocity Limb muscle weakness Spastic paraparesis Abnormal pyramidal sign Distal muscle weakness Facial palsy Dysmetria Difficulty walking High forehead Pes cavus Talipes equinovarus Abnormality of the skeletal system Skeletal muscle atrophy Hyperreflexia Motor delay Distal amyotrophy Periorbital fullness Thin upper lip vermilion Conductive hearing impairment Diarrhea Episodic vomiting Toenail dysplasia Hyperorality Brachycephaly Prominent forehead Upslanted palpebral fissure Heat intolerance Delayed CNS myelination Feeding difficulties in infancy Concave nasal ridge Blepharophimosis Arrhythmia Abnormality of the periventricular white matter Poor eye contact Scarring Weak cry Cellulitis 2-3 toe syndactyly Inguinal hernia Mitral regurgitation Hernia Posteriorly rotated ears Sparse eyebrow Bilateral ptosis Hemangioma Fine hair Mitral valve prolapse Ichthyosis Pulmonic stenosis Low-set, posteriorly rotated ears Proptosis Hyperkeratosis Cardiomyopathy Abnormality of cardiovascular system morphology Myopia Cutis marmorata Aortic regurgitation Prominent supraorbital ridges Pulmonary arterial hypertension Increased serum lactate Optic atrophy Hydrocephalus Fulminant hepatic failure Tongue thrusting Polycystic kidney dysplasia Attention deficit hyperactivity disorder Recurrent upper respiratory tract infections Frontal bossing Aortic valve stenosis Bilateral single transverse palmar creases Irritability Intellectual disability, moderate Narrow palpebral fissure Laryngomalacia Anxiety Short metatarsal Pyloric stenosis EEG abnormality Patent ductus arteriosus Absent speech Self-injurious behavior Headache Obsessive-compulsive behavior Abnormality of the pinna Mild short stature Supernumerary nipple Tracheomalacia Overweight Low hanging columella Renal neoplasm Broad face Subvalvular aortic stenosis Broad columella Abnormal aortic morphology Pain insensitivity Self-biting Ventricular septal defect Abnormality of the dentition Short toe Sparse and thin eyebrow Vomiting Short palm Finger syndactyly Poor head control Toe syndactyly Increased intracranial pressure Abnormality of the outer ear Joint hyperflexibility Cerebral visual impairment Thin vermilion border Tall stature Chronic diarrhea Nephrolithiasis Abnormality of the genital system Hepatitis Renal cyst Downturned corners of mouth Short phalanx of finger Wide intermamillary distance Stereotypy Facial asymmetry Sparse scalp hair Congenital diaphragmatic hernia Narrow forehead Eczema Underdeveloped nasal alae High, narrow palate Short metacarpal Round face Short foot Highly arched eyebrow Small hand Hepatic failure Nephroblastoma Thick lower lip vermilion Brachydactyly Leukemia Syndactyly Glaucoma Ophthalmoplegia Lower limb muscle weakness Brain atrophy Urinary incontinence Onion bulb formation Anemia Splenomegaly Thrombocytopenia Recurrent respiratory infections Abnormality of the nervous system Neurological speech impairment Abnormality of the cerebral white matter Abnormality of the Achilles tendon Neutropenia Postural instability Progressive cerebellar ataxia Gliosis Decreased antibody level in blood Pancytopenia Telangiectasia Clonus Bone marrow hypocellularity Leukopenia Incoordination Myelodysplasia Aplasia/Hypoplasia of the cerebellum Ankle clonus Diffuse axonal swelling Pili canaliculi Acute myeloid leukemia Abnormality of the hand Spasticity Proximal muscle weakness Spastic paraplegia Abnormality of the foot Genu valgum Paraplegia Joint hypermobility Falls Abnormal cerebellum morphology Abnormality of the hair Fasciculations Sensorimotor neuropathy CNS hypomyelination Steppage gait Abnormality of the pituitary gland Sensory axonal neuropathy Amyotrophic lateral sclerosis Decreased number of peripheral myelinated nerve fibers Axonal loss Facial diplegia Motor axonal neuropathy Bulbar signs Woolly hair Areflexia of lower limbs Morphological abnormality of the pyramidal tract Hyporeflexia of lower limbs Red hair Abnormal hand morphology Curly eyelashes Myeloid leukemia Impaired vibration sensation in the lower limbs Depressed nasal bridge Depressed nasal ridge Distal sensory loss of all modalities Civatte bodies Foot osteomyelitis Autoamputation of foot Tremor Edema Cerebellar hypoplasia Cerebral cortical atrophy Narrow mouth Long face Generalized myoclonic seizures Memory impairment Intention tremor Infantile muscular hypotonia Morphological abnormality of the central nervous system Large forehead Abnormal cortical gyration Impaired social interactions Positive Romberg sign Nonprogressive cerebellar ataxia Abnormal social behavior Poor motor coordination Narrow nasal tip Mesiodens Short ear Hippocampal atrophy Hypoplastic hippocampus Segmental myoclonic seizures Neoplasm Paronychia Chronic axonal neuropathy Hyperactive deep tendon reflexes Paralysis Acute leukemia Gait imbalance Abnormality of neutrophils Vertical nystagmus Abnormal platelet function Increased sensitivity to ionizing radiation Hypoplastic anemia Acute myelomonocytic leukemia Abnormal macrophage morphology Muscle weakness Respiratory insufficiency Dementia Hyperhidrosis Mental deterioration Cough Decreased sensory nerve conduction velocity Paresthesia Abnormality of the skin Hypotension Abnormal blistering of the skin Abnormal autonomic nervous system physiology Anosmia Hammertoe Anhidrosis Osteomyelitis Pathologic fracture Aseptic necrosis Vocal cord paralysis Decreased number of large peripheral myelinated nerve fibers Restless legs Absent eyebrow



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