Frontal bossing, and Apnea

Diseases related with Frontal bossing and Apnea

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

Top matches:

Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). Genetic Heterogeneity of Pyruvate Dehydrogenase Complex DeficiencyPDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD ) caused by mutation in the component X gene (PDHX ) on chromosome 11p13; a form (PDHBD ) caused by mutation in the PDHB gene (OMIM ) on chromosome 3p14; a form (PDHDD ) caused by mutation in the DLAT gene (OMIM ) on chromosome 11q23; a form (PDHPD ) caused by mutation in the PDP1 gene (OMIM ) on chromosome 8q22; and a form (PDHLD ) caused by mutation in the LIAS gene (OMIM ) on chromosome 4p14.

PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD Is also known as ataxia, intermittent, with pyruvate dehydrogenase deficiency|pyruvate decarboxylase deficiency|pdh deficiency|ataxia with lactic acidosis i|ataxia, intermittent, with abnormal pyruvate metabolism|pyruvate dehydrogenase complex deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterised by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).

SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME Is also known as saddan|saddan dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE ACHONDROPLASIA-DEVELOPMENTAL DELAY-ACANTHOSIS NIGRICANS SYNDROME

Other less relevant matches:

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

High match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

High match DYSOSTEOSCLEROSIS

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

Top 5 symptoms//phenotypes associated to Frontal bossing and Apnea

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

Other less frequent symptoms

Patients with Frontal bossing and Apnea. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus Skeletal dysplasia Narrow chest Depressed nasal bridge Midface retrusion Muscular hypotonia Hypertelorism Short stature Craniosynostosis Sleep apnea Brachycephaly Prominent forehead Malar flattening Micrognathia Abnormality of pelvic girdle bone morphology Recurrent fractures Wormian bones Brachydactyly Blindness Abnormality of the dentition Hearing impairment Kyphosis High palate Delayed eruption of teeth Scoliosis Wide nasal bridge Cognitive impairment Abnormal facial shape Ventriculomegaly Long philtrum Hyperactivity Respiratory failure Microcephaly Anteverted nares

Rare Symptoms - Less than 30% cases

Abnormality of dental enamel Hyperlordosis Narrow iliac wings Cerebral atrophy Hepatosplenomegaly Platyspondyly Severe short stature Visual impairment Feeding difficulties Encephalopathy Coarse facial features Intellectual disability, severe Mandibular prognathia Splenomegaly Abnormality of the skeletal system Dolichocephaly Camptodactyly Dysarthria Osteopetrosis Developmental regression Upper airway obstruction Nystagmus Delayed eruption of primary teeth Absent frontal sinuses High, narrow palate Increased susceptibility to fractures Micromelia Lumbar hyperlordosis Pain Obstructive sleep apnea Mesomelia Abnormality of the ribs Diaphyseal thickening Low-set ears Abnormality of the clavicle Cerebral cortical atrophy Disproportionate short stature Brain atrophy Central apnea Carious teeth Osteoporosis Recurrent respiratory infections Lethargy Proptosis Thoracic hypoplasia Femoral bowing Ataxia Increased bone mineral density Chronic otitis media Acanthosis nigricans Abnormality of epiphysis morphology Wide anterior fontanel Abnormality of the metaphysis Rhizomelia Flared metaphysis Hepatomegaly Spina bifida occulta Genu valgum Tapered finger Coxa vara Clinodactyly of the 5th finger Sloping forehead Sinusitis Large fontanelles Abnormality of the metacarpal bones Ulnar bowing Humeroradial synostosis Open bite Hemivertebrae Abnormal renal morphology Lambdoidal craniosynostosis Vaginal atresia Broad forehead Anemia Cleft palate Small nail Narrow palate Abnormality of the nail Short toe Bone pain Bicoronal synostosis Fused labia minora Abnormal vertebral morphology Abnormality of the face Blue sclerae Osteolysis Abnormality of the skin Growth hormone deficiency Prominent nose Hypoplasia of the maxilla Hypodontia Postural instability Short distal phalanx of finger High forehead Abnormality of the fingernails Pear-shaped nose Abnormal pelvis bone ossification Small face Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Ridged nail Narrow pelvis bone Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Increased number of teeth Back pain Abnormality of the thorax Rib segmentation abnormalities Short clavicles Noncommunicating hydrocephalus Macular atrophy Aplasia/Hypoplasia of the skin Dermal atrophy Oligodontia Short ribs Cerebral calcification Round face Osteopenia Ventricular septal defect Optic atrophy Enlarged fossa interpeduncularis Thin ribs Thickened superior cerebellar peduncle Neonatal breathing dysregulation Brainstem dysplasia Dysgenesis of the cerebellar vermis Episodic tachypnea Elongated superior cerebellar peduncle Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Natal tooth Proportionate short stature Rotary nystagmus Rough bone trabeculation Increased intervertebral space Sclerosis of hand bone Sclerotic scapulae Abnormal metaphyseal trabeculation Clavicular sclerosis Short diaphyses Absent paranasal sinuses Optic nerve compression Cranial nerve compression Parietal bossing Hypoplastic vertebral bodies Premature loss of teeth Abducens palsy Vertebral hypoplasia Sclerosis of skull base Broad femoral neck Short sternum Delayed closure of the anterior fontanelle Craniofacial hyperostosis Broad ribs Facial paralysis Abnormal cranial nerve morphology Irregular vertebral endplates Accessory oral frenulum Abnormal corpus callosum morphology Sprengel anomaly Choanal stenosis Neonatal hypotonia Polydactyly Microphthalmia Renal insufficiency Failure to thrive Neck muscle hypoplasia Cervical segmentation defect Short face Shoulder muscle hypoplasia Hypoplastic inferior ilia Cervical C2/C3 vertebral fusion Retinopathy Abnormal sacrum morphology Dimple chin Abnormality of the thumb Dystrophic fingernails Dystrophic toenail Decreased skull ossification Hypoplastic scapulae Down-sloping shoulders Hypoplasia of the zygomatic bone Hearing abnormality Glossoptosis Coloboma Abnormality of the foot Abnormal renal physiology Patent foramen ovale Agenesis of cerebellar vermis Optic nerve coloboma Impaired smooth pursuit Congenital blindness Acute kidney injury Nephronophthisis External genital hypoplasia Molar tooth sign on MRI Hypoplasia of the brainstem Chorioretinal coloboma Abnormal electroretinogram Postaxial polydactyly Oculomotor apraxia Hepatic fibrosis Renal dysplasia Encephalocele Apraxia Postaxial hand polydactyly Dandy-Walker malformation Esotropia Abnormal cerebellum morphology Renal cyst Retinal dystrophy Hypoplastic labia majora Clonus Stenosis of the external auditory canal Myoclonus Hypsarrhythmia Epileptic encephalopathy Focal-onset seizure Aciduria Broad nasal tip Flat face Protruding ear Irritability Behavioral abnormality Cerebral visual impairment Vomiting Cardiomyopathy Respiratory distress Respiratory insufficiency Muscle weakness Apneic episodes precipitated by illness, fatigue, stress Basal ganglia cysts Chronic lactic acidosis Congenital lactic acidosis Involuntary movements Absence seizures Flared nostrils Generalized tonic seizures D-2-hydroxyglutaric aciduria Subependymal cysts Cardiogenic shock Glutaric aciduria Infantile encephalopathy Anteverted ears Narrow naris Inspiratory stridor Episodic vomiting Severe muscular hypotonia Periventricular leukomalacia Delayed CNS myelination Dilation of lateral ventricles Increased CSF protein Turricephaly Stridor Focal impaired awareness seizure Shock Aortic regurgitation Decreased activity of the pyruvate dehydrogenase complex Hyperalaninemia Hypoplasia of the corpus callosum Acidosis Coma Metabolic acidosis Lactic acidosis Abnormality of eye movement Ophthalmoplegia Small for gestational age Paralysis Abnormality of the nervous system Agenesis of corpus callosum Increased serum lactate Pneumonia Areflexia Dilatation Dystonia Motor delay Ptosis Spasticity Strabismus Growth delay Tetraplegia Spastic tetraplegia Olivopontocerebellar atrophy Mild global developmental delay Broad philtrum Severe lactic acidosis Episodic ataxia Breech presentation Increased CSF lactate Short attention span Preeclampsia Mild microcephaly Ketosis Choreoathetosis Hyperventilation Central hypotonia Infantile spasms Partial agenesis of the corpus callosum Global brain atrophy Hyperammonemia Tachypnea Heterotopia Clumsiness Multifocal cerebral white matter abnormalities Congestive heart failure Coronal craniosynostosis Abnormal form of the vertebral bodies Spinal canal stenosis Limited elbow extension Elbow dislocation Genu varum Short long bone Disproportionate short-limb short stature Dental crowding Bowing of the long bones Limb undergrowth Large forehead Dental malocclusion Sudden cardiac death Short palm Joint hyperflexibility Neurological speech impairment Joint stiffness Conductive hearing impairment Hyperhidrosis Obesity Abnormality of the elbow Neonatal short-limb short stature Hyperreflexia Progressive neurologic deterioration Esophageal atresia Slender finger Malnutrition Multiple joint contractures Rocker bottom foot Radioulnar synostosis Abnormality of the genitourinary system Choanal atresia Arachnodactyly Long thorax Respiratory tract infection Abnormality of the pinna Atrial septal defect Flexion contracture Acromelia Abnormality of the ilium Childhood onset short-limb short stature Narrow sacroiliac notch Aplasia/hypoplasia of the extremities Intrauterine growth retardation Expressive language delay Gastroesophageal reflux Cloverleaf skull Inguinal hernia Abnormality of metabolism/homeostasis Intellectual disability, mild Epicanthus Enlarged cerebellum Aplasia/Hypoplasia of the mandible Fibular bowing Metaphyseal chondrodysplasia Megalencephaly Thin upper lip vermilion Tibial bowing Redundant skin Exotropia Pulmonary arterial hypertension Epidermal acanthosis High myopia Generalized-onset seizure Otitis media Severe global developmental delay Abdominal pain Elevated hepatic transaminase Spinal deformities 2-3 toe syndactyly Long hallux Prolonged prothrombin time Abnormality of the mitochondrion Periorbital fullness Prolonged partial thromboplastin time Dysostosis multiplex Episodic abdominal pain Protuberant abdomen Hypoplastic nipples Cholelithiasis Attention deficit hyperactivity disorder Hyperkinesis Generalized hirsutism Hoarse voice Low posterior hairline Memory impairment Macroglossia Joint hypermobility Smooth philtrum Synophrys Progressive bowing of long bones


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