Microcephaly, and Dolichocephaly

Diseases related with Microcephaly and Dolichocephaly

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.

SMITH-MCCORT DYSPLASIA Is also known as smc

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Kyphosis
  • Dolichocephaly
  • Platyspondyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000).See also isolated L-2-hydroxyglutaric aciduria (OMIM ) and isolated D-2-hydroxyglutaric aciduria (see {600721}).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA; D2L2AD

Other less relevant matches:

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 2; MGORS2

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 9; SCKL9

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER); PBD12A

Top 5 symptoms//phenotypes associated to Microcephaly and Dolichocephaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scaphocephaly Feeding difficulties High palate Long face Ventriculomegaly Short stature Prominent nose Growth delay Talipes equinovarus Abnormal facial shape Failure to thrive Micrognathia Intrauterine growth retardation

Rare Symptoms - Less than 30% cases

Short nose Hydrocephalus Ventricular septal defect Upslanted palpebral fissure Hepatomegaly Macrocephaly Ptosis Respiratory insufficiency Respiratory distress Deep philtrum Encephalopathy Atrial septal defect Apnea Delayed myelination Postnatal microcephaly Cerebral visual impairment Hypotelorism Astigmatism Neonatal hypotonia Broad forehead Cleft palate Synophrys Decreased fetal movement Low-set ears Hypoplasia of the corpus callosum Delayed speech and language development Wide nasal bridge Clitoral hypertrophy Aggressive behavior Smooth philtrum Scoliosis Epicanthus Unsteady gait Neurodevelopmental delay Breast hypoplasia Patellar aplasia Labial hypoplasia Overlapping toe Myopathic facies Slender long bone Hypoplastic labia majora Tracheomalacia Facial hypotonia High pitched voice Emphysema Cataract Underdeveloped nasal alae Bilateral ptosis Aplasia/Hypoplasia of the patella Precocious puberty Absent speech Anxiety Telecanthus Facial asymmetry Esotropia Epileptic encephalopathy Prominent forehead Myoclonus Open mouth Edema High forehead Visual impairment Strabismus Nystagmus Broad-based gait Cafe-au-lait spot CNS hypomyelination Birth length less than 3rd percentile Bronchomalacia Cryptorchidism Accelerated skeletal maturation Motor delay Decreased body weight Multicystic kidney dysplasia Cortical gyral simplification Recurrent lower respiratory tract infections Chronic lung disease Pulmonary artery hypoplasia Cerebral atrophy Patent ductus arteriosus Elevated hepatic transaminase Hepatic failure Triangular face Sepsis Peripheral demyelination Wide anterior fontanel Recurrent urinary tract infections Hyperbilirubinemia Cholelithiasis Central hypotonia Double outlet right ventricle Renal tubular dysfunction Abnormal cortical bone morphology Delayed closure of the anterior fontanelle Periorbital fullness CNS demyelination Cranial asymmetry Elevated long chain fatty acids Abnormality of the hairline Narrow face Pachygyria Myopia Broad femoral neck Hypospadias Micropenis Gait ataxia Autism Retrognathia Rhizomelia Coxa valga Microtia Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Obstructive sleep apnea Immunodeficiency Abnormal lung morphology Hernia Recurrent respiratory infections Respiratory failure Polyhydramnios Protruding ear Abnormal cardiac septum morphology Small for gestational age Asthma Convex nasal ridge Ambiguous genitalia Congenital diaphragmatic hernia Hypertrichosis Joint hypermobility Muscular hypotonia of the trunk Postnatal growth retardation Multicentric femoral head ossification Hypoplastic scapulae Disproportionate short-trunk short stature Irregular epiphyses Prominent sternum Atlantoaxial instability Hypoplastic facial bones Abnormal enchondral ossification Hypoplastic acetabulae Deformed sella turcica Delayed femoral head ossification Neoplasm Barrel-shaped chest Muscle weakness Dystonia Clinodactyly Cerebellar hypoplasia Agenesis of corpus callosum Dyspnea Irritability Aciduria Severe muscular hypotonia Optic nerve hypoplasia Beaking of vertebral bodies Spinal cord compression Apathy Polyphagia Downslanted palpebral fissures Malar flattening Obesity Thin upper lip vermilion Intellectual disability, moderate Short philtrum Wide nose Pointed chin Short chin Truncal obesity Overweight Hypoplasia of the odontoid process Broad eyebrow Long eyebrows Kyphosis Platyspondyly Genu valgum Short metacarpal Waddling gait Limb undergrowth Short phalanx of finger Genu varum Metaphyseal irregularity Poor suck Stridor Abnormality of the pinna Thick eyebrow Hyperreflexia Babinski sign Pes cavus Posteriorly rotated ears Hyperactivity Mandibular prognathia EEG abnormality Joint laxity Talipes Bulbous nose Highly arched eyebrow Exencephaly Tapered finger Brain atrophy Hypsarrhythmia Long eyelashes Progressive microcephaly Decreased muscle mass Delayed ability to walk Delayed skeletal maturation Narrow mouth Gastroesophageal reflux Camptodactyly Spasticity Small posterior fossa Poor eye contact Coloboma Inspiratory stridor D-2-hydroxyglutaric aciduria L-2-hydroxyglutaric aciduria Depressed nasal bridge Abnormality of the skeletal system Anteverted nares Intellectual disability, severe Microphthalmia Midface retrusion Macrotia Hypermetropia Proboscis Oral cleft Microcornea Narrow forehead Exotropia Holoprosencephaly Trigonocephaly Absent thumb Abnormality of digit Facial cleft Single median maxillary incisor Cyclopia Abnormality of the male genitalia


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