Microcephaly, and Premature birth

Diseases related with Microcephaly and Premature birth

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

Top matches:

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Pyridoxal phosphate-responsive seizures is a very rare neonatal epileptic encephalopathy disorder characterized clinically by onset of severe seizures within hours of birth that are not responsive to anticonvulsants, but are responsive to treatment with pyridoxal phosphate.

PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES Is also known as pyridoxamine 5'-phosphate oxidase deficiency|seizures, pyridoxine-resistant, plp-sensitive|pnpo deficiency|pyridoxal phosphate-dependent seizures|epileptic encephalopathy, neonatal, pnpo-related|pnpo-related neonatal epileptic encephalopathy|pyridoxamine

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Failure to thrive
  • Anemia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYRIDOXAL PHOSPHATE-RESPONSIVE SEIZURES

Other less relevant matches:

Medium match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype) (Gribouval et al., 2005). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects.

RENAL TUBULAR DYSGENESIS; RTD Is also known as primitive renal tubule syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL TUBULAR DYSGENESIS; RTD

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

Top 5 symptoms//phenotypes associated to Microcephaly and Premature birth

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Failure to thrive Short stature Scoliosis Visual impairment Flexion contracture Polyhydramnios Leukodystrophy Myoclonus Respiratory insufficiency CNS hypomyelination Nystagmus Muscular hypotonia of the trunk Spasticity Cleft palate

Rare Symptoms - Less than 30% cases

Autism Abnormal pyramidal sign Delayed speech and language development Arthrogryposis multiplex congenita Micrognathia Skeletal muscle atrophy Rotary nystagmus Posterior helix pit Prominent nose Agenesis of corpus callosum Autistic behavior Hypsarrhythmia Ventricular septal defect Global brain atrophy Hypertelorism Dystonia Tetralogy of Fallot Polymicrogyria Hepatomegaly Respiratory distress Hypertonia Encephalopathy Respiratory failure Acidosis Neonatal hypotonia Developmental regression Abnormality of the dentition Sudanophilic leukodystrophy Metabolic acidosis Increased serum lactate Convex nasal ridge Diffuse cerebral sclerosis Choanal atresia Cryptorchidism Abnormality of the urinary system Intellectual disability, mild Increased body weight Choreoathetosis Involuntary movements Spastic tetraplegia Muscle stiffness Cerebral palsy Broad-based gait Clumsiness Lower limb spasticity Head tremor Cachexia Psychomotor deterioration Congenital laryngeal stridor Head titubation Macrogyria Cerebral dysmyelination Progressive spastic quadriplegia Scanning speech Arteriovenous malformation Failure to thrive in infancy Abnormality of visual evoked potentials Progressive spasticity Bowel incontinence Spastic diplegia Stridor Spinal muscular atrophy Chorea Tremor Tetraplegia Aplasia of the thymus Ataxia Hearing impairment Renotubular dysgenesis Renal magnesium wasting Vascular ring Infra-orbital crease Potter facies Anuria Peripheral neuropathy Absent gallbladder Widely patent fontanelles and sutures Accessory spleen Right aortic arch Decreased circulating renin level Proximal tubulopathy Interrupted aortic arch Muscular hypotonia Hyperreflexia Paraplegia Recurrent respiratory infections Abnormality of movement Spastic paraplegia Neurological speech impairment Paralysis Joint stiffness Cerebral cortical atrophy Dementia Babinski sign Dysarthria Hyporeflexia Kyphosis Behavioral abnormality Intellectual disability, severe Dysphagia Gait disturbance Optic atrophy Reduction of oligodendroglia Depressed nasal ridge Strabismus Jaundice Macroglossia Abdominal distention Hematuria Facial asymmetry Synophrys Abnormality of the kidney Deeply set eye Umbilical hernia Overgrowth Mandibular prognathia Proptosis Brachycephaly Patent ductus arteriosus Malar flattening Splenomegaly Epicanthus Midnasal stenosis Full cheeks Cardiomegaly Prominent median palatal raphe Diastasis recti Auricular pit Hemifacial hypertrophy Anterior creases of earlobe Asymmetry of the thorax Abdominal wall defect Visceromegaly Hemihypertrophy Mild global developmental delay Abnormal eyebrow morphology Abnormality of the face Capillary hemangioma Nevus flammeus Enlarged kidney Neonatal hypoglycemia Abnormality of the ureter Large for gestational age Nephroblastoma Abnormality of the outer ear Pyriform aperture stenosis Single naris Anteverted nares Asthma Hypoplasia of penis Ambiguous genitalia Hypotelorism Specific learning disability Renal agenesis Growth hormone deficiency Ectodermal dysplasia Iris coloboma Holoprosencephaly Cleft upper lip Short philtrum Coloboma Cleft lip Hypothyroidism Severe short stature Microphthalmia Short nose Absent nipple Hemangioma Torus palatinus Abnormality of chromosome segregation Hypothalamic hamartoma Semilobar holoprosencephaly Cyclopia Abnormality of the nasopharynx Single median maxillary incisor Nasal obstruction Panhypopituitarism Hyposmia Duodenal atresia EMG: myopathic abnormalities Maternal diabetes Median cleft lip Hamartoma Narrow nasal bridge Anophthalmia Precocious puberty Tented upper lip vermilion Anosmia Periventricular leukomalacia Long nose Renal tubular dysfunction Moderate global developmental delay Decreased CSF homovanillic acid Hypoargininemia High-pitched cry Hemiclonic seizures Abnormality of the amniotic fluid Fetal distress Excessive salivation EEG with burst suppression Abnormality of the coagulation cascade Leukopenia Progressive microcephaly Hemiparesis Status epilepticus Epileptic encephalopathy Generalized myoclonic seizures Pyridoxine-responsive sideroblastic anemia Abnormality of histidine metabolism Abnormality of eye movement Dilatation Microretrognathia Decreased fetal movement Cerebral calcification Dandy-Walker malformation Cerebellar hypoplasia Abnormality of metabolism/homeostasis Hydrocephalus Abnormality of tyrosine metabolism Ventriculomegaly Macrocephaly Low-set ears Abnormality of arginine metabolism Abnormality of threonine metabolism Low APGAR score Abnormality of glycine metabolism Unsteady gait Feeding difficulties in infancy Pterygium Absent speech Gliosis Severe global developmental delay Rigidity EEG abnormality Coarse facial features Kyphoscoliosis Cerebral atrophy Focal-onset seizure Vomiting Abnormality of brain morphology Progressive encephalopathy Opisthotonus Hyperammonemia Hepatic failure Lactic acidosis Brain atrophy Neuronal loss in central nervous system Hypoglycemia Corpus callosum atrophy Thrombocytopenia Feeding difficulties Anemia Projectile vomiting Rapid neurologic deterioration Progressive flexion contractures Progressive spastic paraparesis Severe failure to thrive Tetraparesis Ankle clonus Decreased muscle mass Spastic tetraparesis Spastic paraparesis Paraparesis Clonus Progressive neurologic deterioration Lissencephaly Akinesia Multiple renal cysts Dental malocclusion Broad hallux Overlapping toe Delayed gross motor development Narrow palate Long eyelashes Broad thumb Intestinal malrotation Preeclampsia Highly arched eyebrow Hirsutism Genu valgum Carious teeth Postnatal growth retardation Retrognathia Delayed skeletal maturation Low hanging columella Overbite Downslanted palpebral fissures Hypotension Adrenal insufficiency Preauricular pit Glomerulonephritis Bilateral single transverse palmar creases Preauricular skin tag Small nail Oligohydramnios Nephropathy Pes valgus Pulmonary hypoplasia Anal atresia Joint hyperflexibility Abnormality of the pinna Clinodactyly Renal insufficiency Mild myopia Syndactyly Myopia Hypoplasia of the brainstem Pneumonia Thin skin Blue sclerae Coarctation of aorta Recurrent fractures Platyspondyly Small for gestational age Congestive heart failure Large fontanelles Cataract Severe hydrocephalus Multiple pterygia Limb joint contracture Hydranencephaly Fetal akinesia sequence Cystic hygroma Bowing of the long bones Wormian bones Wide nasal bridge Broad long bones High palate Cognitive impairment Abnormal facial shape Absent ossification of calvaria Crumpled long bones Beaded ribs Abnormality of calvarial morphology Multiple prenatal fractures Disproportionate short-limb short stature Lens luxation Pulmonary insufficiency Nonimmune hydrops fetalis Tibial bowing Metaphyseal widening Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Congenital megaureter


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Gliosis, related diseases and genetic alterations Hepatomegaly and Cirrhosis, related diseases and genetic alterations Delayed speech and language development and Ventriculomegaly, related diseases and genetic alterations Skeletal muscle atrophy and Decreased antibody level in blood, related diseases and genetic alterations Nystagmus and Hypoplasia of the maxilla, related diseases and genetic alterations Short stature and Conductive hearing impairment, related diseases and genetic alterations