Microcephaly, and Underdeveloped nasal alae

Diseases related with Microcephaly and Underdeveloped nasal alae

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

Top matches:

Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental retardation, and specific dysmorphic features (Faivre et al., 2002).For a general description and a discussion of genetic heterogeneity of Seckel syndrome, see {210600}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 4; SCKL4

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 27; MRD27

Other less relevant matches:

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALAZAMI-YUAN SYNDROME; ALYUS

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5; MRT5

Related symptoms:

  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Microcephaly and Underdeveloped nasal alae

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microcephaly and Underdeveloped nasal alae. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

High palate Feeding difficulties Growth delay Seizures Strabismus Micrognathia Hypertelorism Delayed speech and language development Thin upper lip vermilion Short nose Narrow mouth Prominent nose Clinodactyly Short palpebral fissure Postnatal microcephaly Short philtrum Long philtrum Spasticity Long eyelashes Highly arched eyebrow Failure to thrive Hypertonia Low-set ears Intrauterine growth retardation Postnatal growth retardation Epicanthus

Rare Symptoms - Less than 30% cases

Bulbous nose Short chin Absent speech Scoliosis Hypoplasia of the corpus callosum Gastroesophageal reflux Sparse hair Cryptorchidism Delayed myelination Progressive microcephaly Hypotelorism Hyperactivity Prominent nasal bridge Synophrys Thick eyebrow Esotropia Smooth philtrum Myopathy Wide nasal bridge Hyperreflexia Everted lower lip vermilion Abnormality of the skeletal system Pes planus Cataract Broad hallux Ptosis Depressed nasal bridge Anteverted nares Abnormality of the cerebral white matter Thick vermilion border High forehead Pectus carinatum Hyperlordosis Slender long bone Autistic behavior Wide mouth Attention deficit hyperactivity disorder Patellar aplasia Developmental regression Abnormal cerebellum morphology Thick lower lip vermilion Stereotypy Self-injurious behavior Obsessive-compulsive behavior Nystagmus High pitched voice Aggressive behavior Joint laxity Behavioral abnormality Aplasia/Hypoplasia of the patella Bronchomalacia Birth length less than 3rd percentile Labial hypoplasia Ataxia Gait disturbance Hypoplastic labia majora Breast hypoplasia Cognitive impairment Constipation Tracheomalacia Visual impairment Autism Anxiety Gait ataxia Optic atrophy Peripheral neuropathy Frequent falls Hypertension Short neck Cardiomyopathy Pectus excavatum Falls Webbed neck Low posterior hairline Bilateral ptosis Flexion contracture Mild short stature Centrally nucleated skeletal muscle fibers Thoracolumbar scoliosis Nemaline bodies Fused cervical vertebrae Acetabular dysplasia Cervical C2/C3 vertebral fusion Motor delay Muscle weakness Clitoral hypertrophy Delayed gross motor development Ventriculomegaly Encephalopathy Cerebral cortical atrophy Proptosis Irritability Brain atrophy Sensorimotor neuropathy Poor head control Visual fixation instability Cortical gyral simplification Progressive spasticity Long palpebral fissure Poor eye contact Abnormality of brainstem morphology Delayed fine motor development Abnormality of the cerebral cortex Emphysema Camptodactyly Joint hypermobility Overlapping toe Microphthalmia Acidosis Slender finger Lactic acidosis Hepatic failure Metabolic acidosis Aciduria Frontal bossing Infantile muscular hypotonia Tented upper lip vermilion Adducted thumb Sandal gap Broad nasal tip Neonatal hypotonia Small hand Dystonia Downslanted palpebral fissures Narrow chest Posteriorly rotated ears Full cheeks Growth hormone deficiency Small nail Hypertrichosis Open mouth Short distal phalanx of finger Long nose Intellectual disability, mild Underdeveloped supraorbital ridges Proportionate short stature Abnormality of the nares Hypoplastic fifth toenail Abnormality of the columella Midface retrusion Muscular hypotonia Hypermetropia Poor speech Dolichocephaly Retrognathia 11 pairs of ribs Long face Severe failure to thrive Eczema Decreased body weight Broad-based gait Narrow face Blepharophimosis Brisk reflexes Thick upper lip vermilion Achilles tendon contracture Talipes equinovarus Delayed skeletal maturation Abnormality of the pinna Microtia Small for gestational age Telecanthus Hirsutism Curly eyelashes Single transverse palmar crease Wide intermamillary distance Dental crowding Low anterior hairline Short columella Unilateral cryptorchidism Upslanted palpebral fissure Muscular hypotonia of the trunk Dysarthria Myopia Intellectual disability, severe Abnormality of the dentition Steep acetabular roof Elevated serum creatine phosphokinase Pes cavus Limitation of neck motion


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