Frontal bossing, and Macrotia

Diseases related with Frontal bossing and Macrotia

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

Top matches:

MENTAL RETARDATION, X-LINKED 93; MRX93 Is also known as mental retardation, x-linked, with macrocephaly

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscular hypotonia
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 93; MRX93

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 49; EIEE49

Other less relevant matches:

X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.

X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME Is also known as oligophrenin-1 syndrome|ophn1 syndrome|mental retardation, x-linked 60, formerly|mrx60, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CEREBELLAR HYPOPLASIA SYNDROME

Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

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

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Triangular face Prominent forehead Delayed speech and language development Hydrocephalus Ventriculomegaly Prominent nose Muscular hypotonia Intellectual disability, moderate Long face Abnormal facial shape Hypotelorism

Rare Symptoms - Less than 30% cases

Neonatal hypotonia Acidosis Posteriorly rotated ears Holoprosencephaly Malar flattening Motor delay Downslanted palpebral fissures Low-set ears Intellectual disability, severe Failure to thrive Fusion of the left and right thalami Cerebral cortical atrophy Ataxia Gait ataxia Long eyelashes Absent speech Abnormal cerebellum morphology Hyperactivity Mandibular prognathia Short philtrum Cerebellar hypoplasia Spasticity Cognitive impairment Brachydactyly Pes planus Epicanthus High palate Hypertelorism Microcephaly Short stature Protruding ear Tall stature Upslanted palpebral fissure Cryptorchidism Kyphosis Thin upper lip vermilion Hypercalciuria Muscle cramps Hypokalemia Severe expressive language delay Ventricular arrhythmia Polydipsia Thick corpus callosum Long neck Nephrocalcinosis Dehydration Premature birth Polyuria Generalized muscle weakness Short metacarpal Paresthesia Micrognathia Pain Renal cyst Short distal phalanx of finger Retinal degeneration Nyctalopia Craniosynostosis Horseshoe kidney Rod-cone dystrophy Congenital blindness Metaphyseal chondrodysplasia Blindness Fever Underdeveloped nasal alae Vomiting Diarrhea Arrhythmia Constipation Short neck Polyhydramnios Ventricular septal defect Osteopenia Feeding difficulties Small for gestational age Small nail Hypocalciuria Hyperkalemia Nephrolithiasis Fatigue Areflexia Hypogonadism Retrognathia Facial palsy Feeding difficulties in infancy Dolichocephaly Arthrogryposis multiplex congenita Lactic acidosis Growth hormone deficiency Decreased fetal movement Hypergonadotropic hypogonadism Ptosis Increased body weight Hypocalcemia Severe muscular hypotonia Tented upper lip vermilion Nasal speech Abnormality of mitochondrial metabolism Polyphagia Central hypotonia Neonatal hypoglycemia Severe failure to thrive Cystinuria Schizophrenia Depressed nasal bridge Muscle weakness Hyperthyroidism Pseudohypoaldosteronism Hyperaldosteronism Hypomagnesemia Renal salt wasting Abnormally large globe Alkalosis Chondrocalcinosis Tetany Metabolic alkalosis Impaired platelet aggregation Increased circulating renin level Metopic synostosis Hypokalemic metabolic alkalosis Growth delay Hypokalemic alkalosis Hyposthenuria Hypochloremia Renal potassium wasting Increased urinary potassium Fetal polyuria Hyperactive renin-angiotensin system Hyperchloriduria Hyperprostaglandinuria Increased serum prostaglandin E2 Renal juxtaglomerular cell hypertrophy/hyperplasia Low-to-normal blood pressure Expressive language delay Scoliosis Slender build Flat nasal alae Bilateral microphthalmos Median cleft lip and palate Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Hyperreflexia Broad face Optic atrophy Hypertonia Encephalopathy Myoclonus Coarse facial features EEG abnormality Anxiety Muscular hypotonia of the trunk Severe global developmental delay Everted lower lip vermilion Panhypopituitarism Bilateral cleft lip and palate Dandy-Walker malformation Cleft lip Intellectual disability, mild Pectus excavatum Pointed chin Cupped ear Wide nasal bridge Anteverted nares Short nose Microphthalmia Midface retrusion Agenesis of corpus callosum Broad forehead Depressed nasal tip Smooth philtrum Oral cleft Iris coloboma Highly arched eyebrow Dental malocclusion Omphalocele Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Tetraplegia Epileptic encephalopathy Communicating hydrocephalus Hyperlordosis Retrocerebellar cyst Infra-orbital crease Disorganization of the anterior cerebellar vermis Myopia Cerebellar atrophy Proptosis High forehead Kyphoscoliosis Difficulty walking Joint laxity Prominent nasal bridge Microphallus Arachnodactyly Overgrowth High myopia Lumbar hyperlordosis Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Long foot Abnormality of the philtrum Enlarged cisterna magna Cerebral calcification Attention deficit hyperactivity disorder Spastic tetraplegia Open mouth Thick upper lip vermilion Nystagmus Strabismus Tremor Dilatation Micropenis Autism Deeply set eye Neurological speech impairment Poor eye contact Poor speech Dysmetria Focal-onset seizure Cerebellar vermis hypoplasia Intention tremor Scrotal hypoplasia Prominent supraorbital ridges Focal impaired awareness seizure External genital hypoplasia Long nose Bipolar affective disorder


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