Microcephaly, and Tapered finger

Diseases related with Microcephaly and Tapered finger

In the following list you will find some of the most common rare diseases related to Microcephaly and Tapered finger that can help you solving undiagnosed cases.


Top matches:

High match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX


Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

High match CEREBELLAR-FACIAL-DENTAL SYNDROME


Cerebellofaciodental syndrome is an autosomal recessive neurodevelopmental disorder characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia (summary by Borck et al., 2015).

CEREBELLAR-FACIAL-DENTAL SYNDROME Is also known as cerebellar-facial-dental syndrome|cerebellofaciodental syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBELLAR-FACIAL-DENTAL SYNDROME

High match GALLOWAY-MOWAT SYNDROME 4; GAMOS4


Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 4; GAMOS4

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Other less relevant matches:

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 43; MRD43

High match PEHO-LIKE SYNDROME


PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

High match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME


Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

High match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

High match NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL


NEDMIAL is a neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. Additional common features may include sleep disorder, nonspecific dysmorphic facial features, and joint hyperlaxity (summary by Lessel et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE; NEDMIAL

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61


MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Top 5 symptoms//phenotypes associated to Microcephaly and Tapered finger

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microcephaly and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Abnormal facial shape Hypertelorism Short stature Feeding difficulties Cerebral atrophy Absent speech Hypsarrhythmia Cerebellar hypoplasia Synophrys Delayed speech and language development Ventriculomegaly Low-set ears Epicanthus High palate Aggressive behavior

Rare Symptoms - Less than 30% cases


Thin upper lip vermilion Dystonia Intellectual disability, profound Narrow forehead Visual impairment Polymicrogyria Wide nasal bridge Brain atrophy Inability to walk Kyphoscoliosis Generalized myoclonic seizures Delayed ability to walk Cerebellar atrophy Hyperreflexia Progressive microcephaly Delayed myelination Hyperactivity Hearing impairment Short chin Poor speech Scoliosis Anxiety Behavioral abnormality Chorea Brachycephaly Tetraparesis Scaling skin Palmoplantar hyperkeratosis Neoplasm of the skin Hypermelanotic macule Generalized hirsutism Cerebral visual impairment Macule Irregular hyperpigmentation Abnormality of the nail Abnormality of the hair Abnormality of the testis Thickened skin Nephrocalcinosis Hypertrichosis Hypergranulosis Erythema Abnormality of cardiovascular system morphology Alopecia Hyperhidrosis Diabetes mellitus Glaucoma Hyperkeratosis Weight loss Protruding ear Cutaneous photosensitivity Muscle fibrillation Skin rash Corneal opacity Pruritus Dry skin Palmoplantar keratoderma Abnormal blistering of the skin Epidermal acanthosis Epileptic encephalopathy Long face Generalized hyperkeratosis Dolichocephaly Pes cavus Posteriorly rotated ears Mandibular prognathia Growth delay EEG abnormality Muscular hypotonia of the trunk Joint laxity Decreased muscle mass Talipes equinovarus Long eyelashes Postnatal microcephaly Prominent nose Highly arched eyebrow Thick eyebrow Talipes Bulbous nose Babinski sign Flexion contracture Unsteady gait Pes planus Hirsutism Diffuse palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Patchy palmoplantar keratoderma Ataxia Strabismus Gait ataxia Abnormality of movement Brachydactyly Joint hypermobility Lethargy Everted lower lip vermilion Irritability Involuntary movements Developmental regression Bruxism Blindness Low frustration tolerance Severe muscular hypotonia Cataract Nephrotic syndrome Laryngeal stridor Macrodontia of permanent maxillary central incisor Micrognathia Macrotia Proteinuria Arachnodactyly Stage 5 chronic kidney disease Glomerulosclerosis Taurodontia Focal segmental glomerulosclerosis Diffuse mesangial sclerosis Muscle weakness Anteverted nares Hernia Constipation Autism Hypoplasia of the pons Slender long bone High forehead Homocystinuria Failure to thrive Acidosis Hypermetropia Choreoathetosis Increased body weight Athetosis Methylmalonic aciduria Methylmalonic acidemia Stridor Short neck Sparse hair Dental malocclusion Fine hair Sparse and thin eyebrow Laryngomalacia Sparse eyebrow Narrow mouth Gastroesophageal reflux Multifocal cerebral white matter abnormalities Downturned corners of mouth Infantile encephalopathy Muscular hypotonia Intellectual disability, severe Obesity Clinodactyly of the 5th finger Cerebral cortical atrophy Abnormality of the pinna Round face Pachygyria Congenital hypothyroidism Underdeveloped supraorbital ridges Malignant hyperthermia Congenital stationary night blindness Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Central hypotonia Open mouth Umbilical hernia Optic atrophy Autistic behavior Attention deficit hyperactivity disorder Prominent nasal bridge Wide nose Hip dysplasia Impulsivity Motor delay Edema Status epilepticus Hypertonia Short nose Encephalopathy Myoclonus Retrognathia Neonatal hypotonia Full cheeks Sloping forehead Focal motor seizures



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Micromelia, related diseases and genetic alterations Optic atrophy and Large fontanelles, related diseases and genetic alterations Delayed speech and language development and Cerebellar vermis hypoplasia, related diseases and genetic alterations Depressed nasal bridge and Neuronal loss in central nervous system, related diseases and genetic alterations High palate and Recurrent respiratory infections, related diseases and genetic alterations Anemia and Apraxia, related diseases and genetic alterations

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