Frontal bossing, and Prominent nasal bridge

Diseases related with Frontal bossing and Prominent nasal bridge

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

Top matches:

High match AICA-RIBOSIDURIA

AICA-ribosiduria is an extremely severe inborn error of purine biosynthesis characterized clinically in the single reported case to date by profound intellectual deficit, epilepsy, dysmorphic features of the knees, elbows, and shoulders and congenital blindness.

AICA-RIBOSIDURIA Is also known as aica-ribosuria due to atic deficiency|5-amino-4-imidazole carboxamide ribosiduria|atic deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AICA-RIBOSIDURIA

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Other less relevant matches:

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

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

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

CENANI-LENZ SYNDROME Is also known as cenani-lenz syndactyly|cenani syndactyly|syndactyly type 7|syndactyly, type vii|cenani syndactylism

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CENANI-LENZ SYNDROME

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

High match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

Top 5 symptoms//phenotypes associated to Frontal bossing and Prominent nasal bridge

Symptoms // Phenotype % cases
Prominent forehead Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Frontal bossing and Prominent nasal bridge. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Thin upper lip vermilion Short stature Cataract Joint laxity Downslanted palpebral fissures Ptosis High palate Cryptorchidism Micrognathia Seizures Wide mouth Abnormal facial shape Triangular face Clinodactyly Long philtrum High forehead Wide nasal bridge Bulbous nose Proptosis Short neck Malar flattening Thin vermilion border Delayed speech and language development Global developmental delay Short nose Failure to thrive Intellectual disability, severe Brachycephaly Anteverted nares Short philtrum Microcephaly Macrocephaly Deep philtrum Kyphosis Pectus excavatum Muscular hypotonia Finger syndactyly Pes planus

Rare Symptoms - Less than 30% cases

Posteriorly rotated ears Absent speech Severe muscular hypotonia Renal hypoplasia Cleft palate Pulmonic stenosis Retrognathia Cognitive impairment Thick eyebrow Osteopenia Open mouth Everted lower lip vermilion Clinodactyly of the 5th finger Hernia Ventricular septal defect Brachydactyly Finger clinodactyly Abnormal dermatoglyphics Hip dislocation Protruding ear Depressed nasal bridge Hearing impairment Broad forehead Smooth philtrum Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Intrauterine growth retardation Epicanthus Hypospadias Strabismus Nystagmus Hydronephrosis Wide anterior fontanel Prominent nose Wide nose Abnormal heart morphology Esotropia Abnormality of cardiovascular system morphology Narrow chest Intellectual disability, profound Deeply set eye Kyphoscoliosis Atrial septal defect Flexion contracture Optic atrophy Ataxia Growth delay Slender build Long foot Feeding difficulties Mandibular prognathia Single transverse palmar crease Arachnodactyly Long face Hypoplasia of the maxilla Hypothyroidism Mixed hearing impairment Profound global developmental delay Fused labia minora Systemic lupus erythematosus Radioulnar synostosis Facial hypotonia Elbow dislocation Ectropion Hypoplasia of the ulna Abnormality of digit Absent thumb Hip contracture Laryngomalacia Global brain atrophy Congenital hypothyroidism Oligodactyly Failure to thrive in infancy Synostosis of carpal bones Absent toenail Absent fingernail Hypoplasia of the radius Renal hypoplasia/aplasia Abnormality of the metacarpal bones Convex nasal ridge Syndactyly Congenital cataract Profound static encephalopathy Toe syndactyly Appendicular hypotonia Micromelia High, narrow palate Hypodontia Renal agenesis Abnormality of the ribs Generalized tonic seizures Abnormal form of the vertebral bodies Foot oligodactyly Short thumb Congenital hip dislocation Hemivertebrae Narrow palate Abnormality of dental enamel Intellectual disability, mild Pectus carinatum Abnormality of the genital system Synostosis of joints Bilateral renal hypoplasia Dolichocephaly Shawl scrotum Sprengel anomaly Lipoma Widow's peak Abnormality of the helix Advanced eruption of teeth Dimple chin Broad eyebrow Female pseudohermaphroditism Microphthalmia Micropenis Coloboma Iris coloboma Broad palm Webbed neck Hypotelorism Holoprosencephaly Patent foramen ovale Trigonocephaly Supernumerary nipple Absent septum pellucidum Aplasia/Hypoplasia of the thumb Abnormality of the gastrointestinal tract Thickened helices Retinoblastoma Anteverted ears Natal tooth Long palpebral fissure Crossed fused renal ectopia Blindness Tented upper lip vermilion Congenital blindness Clitoral hypertrophy Patent ductus arteriosus Arrhythmia Abnormality of the skin Umbilical hernia Abnormality of metabolism/homeostasis Cleft lip Craniosynostosis Hypermetropia Oral cleft Highly arched eyebrow High hypermetropia Broad nasal tip Round face Tetralogy of Fallot Congenital diaphragmatic hernia Omphalocele Short toe Short chin Atrioventricular block Heart murmur Bilateral cryptorchidism Preauricular pit Ectopic kidney Cachexia Sleep disturbance Infantile muscular hypotonia Elbow flexion contracture Posterior subcapsular cataract Hepatocellular carcinoma Cerebellar hypoplasia Subcapsular cataract Upslanted palpebral fissure Cerebral cortical atrophy Gait ataxia Premature graying of hair Macrotia Lipodystrophy Difficulty walking Hyperlordosis Hydrocephalus Abnormal cerebellum morphology Overgrowth High myopia Lumbar hyperlordosis Tall stature Sparse eyebrow Large hands Disproportionate tall stature Long fingers Megalencephaly Communicating hydrocephalus Metopic synostosis Cerebellar atrophy Ventriculomegaly Long neck Cardiomegaly Acidosis Cardiomyopathy Hypertrophic cardiomyopathy Camptodactyly Respiratory insufficiency Hepatomegaly Lactic acidosis Metabolic acidosis Increased serum lactate Aciduria Oligohydramnios Hypertension Thoracic kyphosis Aortic valve stenosis Cardiac arrest Spontaneous abortion Hyperammonemia Rocker bottom foot Severe failure to thrive Severe lactic acidosis 3-Methylglutaconic aciduria Fulminant hepatic failure Thoracic kyphoscoliosis Down-sloping shoulders Myopia Expressive language delay Thick corpus callosum Plagiocephaly Encephalopathy Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Pain Neoplasm Spasticity Abnormality of the musculature Abnormality of the sternum Dystonia Cerebral atrophy Constipation High iliac wings Nasal speech Growth abnormality Severe global developmental delay Poor speech Inability to walk Dyskinesia Small hand Tapered finger Congestive heart failure Brain atrophy Narrow face Choreoathetosis Sutural cataract Narrow iliac wings Severe expressive language delay Bifid uvula Decreased body weight Hepatic failure Midface retrusion Gastroesophageal reflux Carcinoma Skeletal dysplasia Sparse hair Carious teeth Joint hyperflexibility Abnormality of skin pigmentation Abdominal pain Delayed eruption of teeth Delayed skeletal maturation Hypoplasia of teeth Skeletal muscle atrophy Microdontia Large fontanelles Hyperpigmentation of the skin Hemangioma Coarse hair Prominent supraorbital ridges Brittle hair Premature loss of teeth Capillary hemangioma Decreased skull ossification Delayed closure of the anterior fontanelle Leukocoria


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