Frontal bossing, and Photophobia

Diseases related with Frontal bossing and Photophobia

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


Top matches:

High match CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4


Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

High match AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA


Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

High match CYSTINOSIS, NEPHROPATHIC; CTNS


Cystinosis has been classified as a lysosomal storage disorder on the basis of cytologic and other evidence pointing to the intralysosomal localization of stored cystine. Cystinosis differs from the other lysosomal diseases inasmuch as acid hydrolysis, the principal enzyme function of lysosomes, is not known to play a role in the metabolic disposition of cystine. The fact that plasma levels are well below saturation indicates that the defect is a cellular one. Within the cell, cystine is compartmentalized with acid phosphatase and is membrane-bound as demonstrated by electron microscopy. Ferritin accumulates in the same organelle which appears to be the lysosome.

CYSTINOSIS, NEPHROPATHIC; CTNS Is also known as cystinosin, defect of|lysosomal cystine transport protein, defect of

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about CYSTINOSIS, NEPHROPATHIC; CTNS

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Other less relevant matches:

High match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

High match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Medium match LEBER CONGENITAL AMAUROSIS


Leber congenital amaurosis (LCA) is a retinal dystrophy defined by blindness and responses to electrophysiological stimulation (Ganzfeld electroretinogram (ERG)) below threshold, associated with severe visual impairment within the first year of life.

LEBER CONGENITAL AMAUROSIS Is also known as crb|amaurosis congenita of leber i|lca|amaurosis congenita of leber|retinal blindness, congenital

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEBER CONGENITAL AMAUROSIS

Medium match MUCOLIPIDOSIS TYPE IV


Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE IV

Medium match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Medium match CHARGE SYNDROME


CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Low match HIDROTIC ECTODERMAL DYSPLASIA


Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.

HIDROTIC ECTODERMAL DYSPLASIA Is also known as ectodermal dysplasia 2, clouston type|ectodermal dysplasia, hidrotic, 2, formerly|ectd2|clouston hidrotic ectodermal dysplasia|ectodermal dysplasia, hidrotic, autosomal dominant|clouston syndrome|hed2, formerly

Related symptoms:

  • Short stature
  • Strabismus
  • Cataract
  • Cognitive impairment
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIDROTIC ECTODERMAL DYSPLASIA

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

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Muscular hypotonia Pigmentary retinopathy Blindness Delayed puberty Retinopathy Hypogonadism Scoliosis Microcephaly Hepatomegaly Epicanthus Strabismus Omphalocele Postnatal growth retardation Generalized hypotonia Hypertelorism Myopia Anteverted nares Palmoplantar keratoderma Abnormality of the skeletal system Kyphosis Talipes Delayed skeletal maturation Retinal dystrophy Abnormality of the dentition Dilatation Intellectual disability, severe Ventriculomegaly Intrauterine growth retardation Feeding difficulties Hernia Respiratory failure Cognitive impairment Failure to thrive Ectodermal dysplasia Hearing impairment Cryptorchidism Visual loss Behavioral abnormality Rod-cone dystrophy Optic atrophy Cataract Vomiting Visual impairment

Rare Symptoms - Less than 30% cases


Hypoplasia of dental enamel Everted lower lip vermilion Full cheeks Microdontia Fine hair Micropenis Plagiocephaly Abnormality of dental enamel Small nail Radial deviation of finger Cupped ear High hypermetropia Slow-growing hair Autism Narrow mouth Bicuspid aortic valve Finger syndactyly Dolichocephaly Talipes equinovarus Heat intolerance Recurrent corneal erosions Hand polydactyly Depressed nasal bridge High palate Brachydactyly Syndactyly Cleft palate Congestive heart failure Abnormality of cardiovascular system morphology Prominent forehead Clinodactyly Clinodactyly of the 5th finger Osteoporosis Sparse hair Apnea Abnormality of the pinna Conjunctivitis Mixed hearing impairment Sensorineural hearing impairment Growth hormone deficiency Abnormal nasolacrimal system morphology Alopecia totalis Hypogonadotrophic hypogonadism Nail dysplasia Blepharitis External genital hypoplasia Coarse facial features Bifid scrotum Scaling skin Specific learning disability Oligohydramnios Abnormality of the ribs Choanal atresia Renal dysplasia Hemivertebrae Failure to thrive in infancy Hypotrichosis Attention deficit hyperactivity disorder Hypermetropia Carious teeth Abnormal electroretinogram Abnormality of retinal pigmentation Immunodeficiency Microphthalmia Narrow forehead Alopecia Recurrent respiratory infections Hyperhidrosis Nail dystrophy Hyperkeratosis Abnormality of the eye Umbilical hernia Hydronephrosis Thin upper lip vermilion Abnormality of the kidney Respiratory tract infection Corneal opacity Hypopigmentation of hair Hypocalcemia Chronic kidney disease Retinal degeneration Genu valgum Hypothyroidism Diabetes mellitus Renal insufficiency Myopathy Dysphagia Fever Thoracic hypoplasia Short ribs Rhizomelia Abnormality of the metaphysis Limb undergrowth Astigmatism Hypopigmentation of the skin Hypohidrosis Telecanthus Pneumonia Short nose Respiratory distress Downslanted palpebral fissures Iris hypopigmentation Type II diabetes mellitus Confusion Mental deterioration Tremor Ataxia Stage 5 chronic kidney disease Platyspondyly Micrognathia Nasal speech Truncal obesity Decreased muscle mass Adrenal insufficiency Sparse and thin eyebrow Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Hyperinsulinemia Precocious puberty Poor suck Sparse scalp hair Skin ulcer Infantile muscular hypotonia Scrotal hypoplasia Sparse eyelashes Sleep apnea Narrow palpebral fissure Spontaneous abortion Palmoplantar hyperkeratosis Abnormality of immune system physiology Increased body weight Aortic valve stenosis Bradycardia Hyperpigmentation of the skin Polyphagia Clumsiness Abnormal soft palate morphology Generalized hypopigmentation Vestibular dysfunction Hypothermia Broad palm Hand monodactyly Ocular albinism Chromosome breakage Hypoplasia of the cochlea Weak cry Hypoplasia of the fovea Bifid femur Acrocyanosis Oligomenorrhea Narrow nasal bridge Overweight Central hypotonia Abnormality of lipid metabolism Parathyroid hypoplasia Hypoventilation Hypoplasia of the semicircular canal Pulmonary embolism Parachute mitral valve Striae distensae Impaired pain sensation Posterior choanal atresia Myeloid leukemia Insulin resistance Primary amenorrhea Abdominal obesity Absent axillary hair Stroke Thick nail Craniofacial hyperostosis Anal stenosis Abnormality of the nervous system Neonatal hypotonia Hypoglycemia Osteopenia Hypohidrotic ectodermal dysplasia Hyperconvex nail Weight loss Clubbing of toes Hyperactivity Pruritus Upslanted palpebral fissure Esophageal atresia Hidrotic ectodermal dysplasia Hyporeflexia Obesity Palmar hyperkeratosis Intellectual disability, mild Edema Absent pubic hair Hypertension External ear malformation Motor delay Leukemia Absent radius Cutaneous photosensitivity Generalized hyperpigmentation Brittle hair Psychosis Decreased fetal movement Abnormality of the cardiovascular system Amenorrhea Hip dysplasia Febrile seizures Clubbing Esotropia Gastrointestinal hemorrhage Sepsis Sleep disturbance Tapered finger Onycholysis Irregular hyperpigmentation Fragile nails Fair hair Short foot Sparse axillary hair Small hand Clubbing of fingers Downturned corners of mouth Short palm Polymicrogyria Sparse pubic hair Arachnodactyly Infertility Cor pulmonale Choanal stenosis Abnormal cranial nerve morphology Highly arched eyebrow Aqueductal stenosis Aplasia/Hypoplasia of the earlobes Dandy-Walker malformation Anterior hypopituitarism Gonadotropin deficiency Peripheral pulmonary artery stenosis Renal agenesis Webbed neck Delayed speech and language development Abnormal aortic valve morphology Vesicoureteral reflux Delayed eruption of teeth Lacrimation abnormality Tetralogy of Fallot Iris coloboma Microphallus Abnormality of female internal genitalia Cleft upper lip Anal atresia Facial asymmetry Interrupted aortic arch Pulmonic stenosis Prominent nasal bridge Pectus carinatum Microtia Abnormal cardiac septum morphology Labial hypoplasia Renal hypoplasia Paralysis Abnormality of the urinary system Abnormally large globe Cranial nerve paralysis Cutaneous syndactyly Abnormality of the outer ear Eyelid coloboma Anosmia Abnormality of vision Duodenal atresia Torticollis Reduced number of teeth Retinal coloboma Laryngomalacia Holoprosencephaly Abnormality of tibia morphology Short chin Horseshoe kidney Narrow face Facial paralysis Hypoplasia of the zygomatic bone Tics Aspiration Lymphopenia Preauricular skin tag Short thumb Abnormality of the genital system Hyposmia Coloboma Feeding difficulties in infancy Double outlet right ventricle Tracheoesophageal fistula Acromicria Anophthalmia Poor gross motor coordination Almond-shaped palpebral fissure Abnormal palmar dermatoglyphics Hypopnea Narrow palm Broad neck Psychotic episodes Hypoplastic labia minora Aplasia/Hypoplasia of the cerebellum Central adrenal insufficiency Square face Obsessive-compulsive behavior Mask-like facies Temperature instability Triangular mouth Abnormality of the inner ear Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Aplasia/Hypoplasia of the thymus Clitoral hypoplasia Anteverted ears Unilateral facial palsy Hypoplasia of the ulna Ptosis Abnormality of bone mineral density Low-set, posteriorly rotated ears Long philtrum Dimple chin Facial palsy Cleft lip Conductive hearing impairment Retrognathia Gastroesophageal reflux Polyhydramnios Abnormal heart morphology Patent ductus arteriosus Hypospadias Midface retrusion Malar flattening Atrial septal defect Down-sloping shoulders Hydrocephalus Arrhinencephaly Overfolded helix Narrow naris Abnormality of the cervical spine Lop ear Abnormality of the thymus Respiratory insufficiency Bilateral choanal atresia Aortic arch aneurysm Abnormality of the adrenal glands Ventricular septal defect Chorioretinal coloboma Poor fine motor coordination Abnormal eyelid morphology Pain Glycosuria Retinal pigment epithelial mottling Corneal crystals Renal Fanconi syndrome Generalized aminoaciduria Primary hypothyroidism Hypophosphatemic rickets Decreased plasma carnitine Male hypogonadism Preeclampsia Flushing Microscopic hematuria Exocrine pancreatic insufficiency Male infertility Polyuria Episodic metabolic acidosis Oral-pharyngeal dysphagia Hyponatremia Rickets Metaphyseal widening Polydipsia Nephrolithiasis Progressive neurologic deterioration Dehydration Cerebral calcification Memory impairment Generalized muscle weakness Abnormality of skin pigmentation Proteinuria Rachitic rosary Oral motor hypotonia Splenomegaly Hypotelorism Scaphocephaly Protuberant abdomen Fibular hypoplasia Short humerus Prominent occiput Short thorax Abnormality of dental morphology Redundant skin Widely spaced teeth Cutis laxa Abnormality of the fingernails Short toe Hepatic fibrosis Hypodontia Elevated intracellular cystine Single transverse palmar crease Nephropathy High, narrow palate Short distal phalanx of finger Hepatic failure Joint hyperflexibility Narrow chest Craniosynostosis Protruding ear Joint laxity High forehead Pectus excavatum Wide nasal bridge Cerebral atrophy Skeletal muscle atrophy Tubulointerstitial nephritis Sensory neuropathy Spastic paraparesis Paraparesis Bilateral single transverse palmar creases Hypergonadotropic hypogonadism Sensorimotor neuropathy Cholestasis Hemiparesis Intention tremor Status epilepticus Migraine Sensory impairment Coma Polyneuropathy Distal sensory impairment Agitation Cirrhosis Nausea Peripheral axonal neuropathy Unsteady gait Abnormality of the liver Irritability Gait ataxia Encephalopathy Depressivity Headache Dysarthria Peripheral neuropathy Spasticity Apathy Atrophy/Degeneration affecting the brainstem Muscle weakness Bronchitis Irregular iliac crest Enchondroma Proximal femoral metaphyseal irregularity Cupped ribs Aplasia/hypoplasia of the extremities Narrow greater sacrosciatic notches Prominent sternum Anterior rib cupping Spondylometaphyseal dysplasia Thoracic dysplasia Ovoid vertebral bodies Thoracic kyphosis Bell-shaped thorax Metaphyseal dysplasia Fat malabsorption Short femoral neck Mild short stature Metaphyseal irregularity Neonatal respiratory distress Epiphyseal dysplasia Coxa vara Recurrent pneumonia Bowing of the long bones Progressive visual loss Nyctalopia Skeletal dysplasia Proptosis Reduced visual acuity Biliary tract abnormality Taurodontia Anodontia Abnormal facial shape Subcortical cerebral atrophy Short philtrum Mandibular prognathia Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Scleritis Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Corneal scarring Cerebellar vermis hypoplasia Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Thin eyebrow Olivopontocerebellar atrophy Hypoplastic fingernail Follicular hyperkeratosis Corneal erosion Absent eyelashes Abnormal eyelash morphology Alopecia of scalp Parakeratosis Congenital cataract Encephalocele Submucous cleft hard palate Hyperthreoninuria Neoplasm Abnormality of ganglioside metabolism Abnormality of mucopolysaccharide metabolism Abnormal nasal morphology Aplasia/Hypoplasia of the abdominal wall musculature Developmental stagnation Genu recurvatum Biparietal narrowing EEG abnormality Absent speech Gait disturbance Hyperreflexia Hyperthreoninemia Eye poking Exotropia Fundus atrophy Talipes equinovalgus Aplasia/Hypoplasia of the cerebellar vermis Abnormality of the optic disc Decreased light- and dark-adapted electroretinogram amplitude Pendular nystagmus Severe vision loss Congenital blindness Hyperactive deep tendon reflexes Keratoconus Abnormality of neuronal migration Hemiplegia/hemiparesis Cone/cone-rod dystrophy Low anterior hairline Uveitis Oligodactyly Elevated serum creatinine Malformation of the hepatic ductal plate Developmental regression Camptodactyly Macrotia Polydactyly Cerebral cortical atrophy Dementia Severe short stature Agenesis of corpus callosum Cerebellar hypoplasia Inguinal hernia Recurrent infections Hypoplasia of the corpus callosum Flexion contracture Broad distal phalanges of all fingers Scarring Incisional hernia Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Sagittal craniosynostosis Abnormal toenail morphology Erythema Camptodactyly of finger Ectrodactyly Opacification of the corneal stroma Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Hydroureter Absent eyebrow Keratitis Intestinal obstruction Unilateral renal agenesis Erythroderma Psoriasiform dermatitis Urticaria Abnormality of the hand Recurrent bacterial infections Hip dislocation Multicystic kidney dysplasia Abnormality of the nail Abnormality of the hair Abnormal vertebral morphology Aganglionic megacolon Epidermal acanthosis Eczema Postaxial hand polydactyly Brain atrophy Postaxial polydactyly Pulmonary hypoplasia Ichthyosis Dry skin Papule Abnormality of nail color



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