Frontal bossing, and Pallor

Diseases related with Frontal bossing and Pallor

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


Top matches:

High match OLIVER-MCFARLANE SYNDROME; OMCS


Oliver-McFarlane syndrome is a rare congenital disorder characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies, including growth hormone (GH ), gonadotropins (see {118860}), and thyroid-stimulating hormone (TSH; see {118850}). Thyroid and GH abnormalities may be present at birth and, if untreated, result in intellectual impairment and profound short stature. Congenital hypogonadism occurs in half of patients, and nearly all have documented hypogonadotropic hypogonadism during puberty, with subsequent reproductive dysfunction. Chorioretinal atrophy is typically noted in the first 5 years of life. Half of reported cases have spinocerebellar involvement, including ataxia, spastic paraplegia, and peripheral neuropathy (summary by Hufnagel et al., 2015).Laurence-Moon syndrome (OMIM ) is an allelic disorder with overlapping features.

OLIVER-MCFARLANE SYNDROME; OMCS Is also known as eyelashes, long, with mental retardation|trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about OLIVER-MCFARLANE SYNDROME; OMCS

High match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

High match HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER


Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

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Other less relevant matches:

High match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

High match HURLER SYNDROME


Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Low match NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B


Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Low match 17Q21.31 MICRODELETION SYNDROME


Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012).

17Q21.31 MICRODELETION SYNDROME Is also known as del(17)(q21.31)|monosomy 17q21.31|chromosome 17q21.31 deletion syndrome|microdeletion 17q21.31 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q21.31 MICRODELETION SYNDROME

Low match MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH


Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe intellectual disability, microcephaly, and variable degrees of pontocerebellar hypoplasia. Affected individuals have very poor psychomotor development, often without independent ambulation or speech, and axial hypotonia with or without hypertonia. Some may have sensorineural hearing loss or eye anomalies. Dysmorphic features include overall poor growth, severe microcephaly (-3.5 to -10 SD), broad nasal bridge and tip, large ears, long philtrum, micrognathia, and hypertelorism (summary by Moog et al., 2011).

MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH Is also known as micpch syndrome|mrxsna|mental retardation, x-linked, syndromic, najm type

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MICPCH

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE


Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

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

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


High palate Hypertelorism Nystagmus Epicanthus Small for gestational age Strabismus Long philtrum Neoplasm Abnormal facial shape Visual impairment Delayed speech and language development Cryptorchidism Ataxia Hyperreflexia Muscular hypotonia Ventriculomegaly Anteverted nares Postnatal growth retardation Optic nerve hypoplasia Abnormal heart morphology Abnormality of cardiovascular system morphology Abnormality of skin pigmentation Abnormality of the skeletal system Long eyelashes Hydrocephalus Headache Hepatomegaly Depressivity Cognitive impairment Absent speech Hypothyroidism Vomiting Micrognathia Fever Cerebellar hypoplasia Hypertonia Flexion contracture Muscle weakness Cleft palate Cerebellar atrophy Cataract

Rare Symptoms - Less than 30% cases


Abnormality of the foot Limitation of joint mobility Bruising susceptibility Neutropenia Dolichocephaly Renal agenesis Abnormal cardiac septum morphology Hip dislocation Pancytopenia Irritability Pes planus Vertigo Leukemia Anemia Umbilical hernia Thrombocytopenia Intrauterine growth retardation Respiratory distress Cafe-au-lait spot Atrial septal defect Congestive heart failure Microphthalmia Hypospadias Proptosis Peripheral visual field loss Optic disc pallor Ptosis Clinodactyly of the 5th finger Eczema Upslanted palpebral fissure Abnormality of the genital system Anemic pallor Short thumb Tremor Dry skin High, narrow palate Everted lower lip vermilion Broad nasal tip Hip dysplasia Progressive visual loss Decreased body weight Exotropia Widely spaced teeth Spasticity Dysmetria Apnea Bulbous nose Narrow palate Tented upper lip vermilion Motor delay Hypoplasia of the corpus callosum Macrotia Intellectual disability, moderate Prominent nasal bridge Hypotelorism Brachycephaly Muscular hypotonia of the trunk Severe global developmental delay Conductive hearing impairment Abnormal vertebral morphology Meckel diverticulum Hypergonadotropic hypogonadism Bone marrow hypocellularity Horseshoe kidney Abnormality of the urinary system Ectopic kidney Absent thumb Absent radius Abnormal aortic valve morphology Reticulocytopenia Duplicated collecting system Complete duplication of thumb phalanx Pes cavus Chromosomal breakage induced by crosslinking agents Prolonged G2 phase of cell cycle Deficient excision of UV-induced pyrimidine dimers in DNA Sensorineural hearing impairment Feeding difficulties Hypertension Wide nasal bridge Skeletal muscle atrophy Short neck Abnormality of the dentition Visual loss Nyctalopia Kyphosis Hepatosplenomegaly Macrocephaly Diarrhea Fatigue Pain Horizontal nystagmus Hyperammonemia Titubation Severe short stature Status epilepticus Depressed nasal bridge Brachydactyly Rod-cone dystrophy Intellectual disability, profound Optic atrophy Hypogonadism Peripheral neuropathy Aciduria Abdominal distention Micropenis Gait ataxia Ventricular septal defect Respiratory insufficiency Encephalopathy Acidosis Polyhydramnios Lactic acidosis Skeletal dysplasia Joint stiffness Retinal degeneration Splenomegaly Distal amyotrophy Renal insufficiency Abdominal pain Constipation Thick eyebrow Pneumonia Abnormality of the skull Metatarsus adductus Multiple joint contractures Flared metaphysis Coronary artery atherosclerosis Restrictive ventilatory defect Abnormality of the pubic bone Abnormal heart valve morphology Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Abnormal CNS myelination Lumbar kyphosis Calcification of falx cerebri Thickened calvaria Arthropathy Spinal canal stenosis Rhinitis Thoracic scoliosis Cervical kyphosis Short mandibular rami Protruding tongue Urinary glycosaminoglycan excretion Hernia of the abdominal wall Thoracolumbar kyphoscoliosis Hypoplasia of the femoral head C1-C2 subluxation Abnormality of the tonsils Enlarged vertebral pedicles Hemiplegia Abnormal mandible coronoid process morphology Stiff interphalangeal joints Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Language impairment Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Stridor Deformed humerus Cervical myelopathy Thick skull base Delayed tarsal ossification Heart murmur Abnormality of joint mobility Broad ischia Flaring of rib cage Abnormality of lysosomal metabolism Mandibular condyle hypoplasia Cervical subluxation Toe walking Hypoplastic cervical vertebrae Enlarged tonsils Calvarial hyperostosis Short clavicles Abnormality of the clavicle Cor pulmonale Sagittal craniosynostosis Hypoplasia of teeth Constrictive median neuropathy Protuberant abdomen Shallow orbits Endocardial fibroelastosis Abnormality of the elbow Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Flared iliac wings Conical tooth Myelopathy Angina pectoris Hypoplastic ilia Upper airway obstruction Communicating hydrocephalus Large earlobe Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Recurrent lower respiratory tract infections Obstructive sleep apnea Diastasis recti Gingivitis Palpebral edema Abnormality of peripheral nerve conduction Abnormality of the middle ear ossicles Narrow pelvis bone Enlargement of the wrists Abnormal hand morphology Heparan sulfate excretion in urine Hypoplasia of the odontoid process Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Large sella turcica Flared nostrils Anterior open bite Rhinorrhea Abnormality of premolar morphology Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Delayed ossification of carpal bones Broad femoral neck Abnormal nerve conduction velocity Myoclonus Abnormal mandibular ramus morphology Glioma Abnormality of hair pigmentation Positional foot deformity Broad chin Conspicuously happy disposition Pear-shaped nose Narrow palm Multifocal epileptiform discharges Expressive language delay Prominent fingertip pads Chronic infection Anteverted ears Abnormality of the head Abnormality of hair texture Spondylolisthesis Clinodactyly Prominent metopic ridge Slender finger Abnormality of the sternum Vertebral fusion Long fingers Cortical dysplasia Impulsivity Overfolded helix Sparse eyebrow Elbow dislocation Aortic aneurysm Failure to thrive in infancy Pyloric stenosis Nasal speech Hypotrophy of the small hand muscles Obesity Abnormality of the genitourinary system Short nose Syndactyly Macrogyria Oval face Dilated fourth ventricle Overlapping fingers Abnormally large globe Plagiocephaly Progressive microcephaly Hypohidrosis Postnatal microcephaly Hypsarrhythmia Epileptic encephalopathy Generalized tonic-clonic seizures Coloboma Intellectual disability, severe Rigidity Truncal titubation Broad face Delayed ability to walk Ankle clonus Agitation Oral-pharyngeal dysphagia Focal impaired awareness seizure Finger clinodactyly Clonus Broad-based gait Cyanosis Abnormal cerebellum morphology Flat face Thin vermilion border Laryngomalacia Bicuspid aortic valve Delayed ossification of the hand bones Tapered finger Pontocerebellar atrophy Cone dysfunction syndrome Absent Achilles reflex Inverted nipples Atrophy/Degeneration affecting the brainstem Steppage gait Sparse hair Distal muscle weakness Sensorimotor neuropathy Narrow forehead Peripheral demyelination Sensory impairment Polyneuropathy Sensory neuropathy Low-set ears Distal sensory impairment Spastic paraplegia Delayed puberty Abnormality of the cerebral white matter Difficulty walking Respiratory failure Prominent supraorbital ridges Paraplegia Babinski sign Hyporeflexia Areflexia Midface retrusion Peripheral axonal neuropathy Dysphagia Trophic changes related to pain Hypoglycemia Sacral dimple Oral cleft Narrow palpebral fissure Joint dislocation Heterotopia Open mouth Alopecia Wide intermamillary distance Focal-onset seizure Otitis media Underdeveloped nasal alae Vesicoureteral reflux Small hand Joint hypermobility Long face Cleft upper lip Arachnodactyly Pectus excavatum Poor speech Pulmonic stenosis Hypermetropia Broad forehead Scarring Blepharophimosis Protruding ear Feeding difficulties in infancy Cleft lip Joint laxity Anxiety Hydronephrosis High forehead Hyperactivity Back pain Elbow flexion contracture Recurrent upper respiratory tract infections Lissencephaly Sloping forehead Tetralogy of Fallot Lymphoma Hypopigmentation of the skin Cholestasis Bowing of the long bones Short toe Astigmatism Anal atresia Facial asymmetry Hyperbilirubinemia Toe syndactyly Aminoaciduria Finger syndactyly Short palpebral fissure Disproportionate short-limb short stature Abnormality of the liver Relative macrocephaly Abnormality of the kidney Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Sarcoma Hypoplasia of the brainstem Abnormality of the coagulation cascade Weight loss Diabetes mellitus Reduced subcutaneous adipose tissue Oligohydramnios Choanal atresia Aplasia/Hypoplasia of the thumb Reduced bone mineral density Multiple cafe-au-lait spots Myeloid leukemia Micromelia Hydroureter Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Hepatic failure Abnormality of vision Hypopigmented skin patches Generalized-onset seizure Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Polymicrogyria Short foot Metabolic acidosis Spina bifida Insulin resistance Postaxial hand polydactyly Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Tarsal synostosis Patent ductus arteriosus Abnormality of blood and blood-forming tissues Dehydration Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Intestinal obstruction Apathy Urticaria Purpura Conjunctivitis Vasculitis Recurrent pneumonia Nephrotic syndrome Gastrointestinal hemorrhage Episodic fever Migraine Sepsis Retinal dystrophy Nausea Lymphadenopathy Hyperhidrosis Infertility Papule Cough Skin rash Erythema Arthralgia Arthritis Subcapsular cataract Uveitis Polycythemia Blindness Fibular hypoplasia Synostosis of carpal bones Short tibia Organic aciduria Enterocolitis Psychomotor deterioration Infantile encephalopathy Aplasia/Hypoplasia involving the metacarpal bones Choroid plexus cyst Mitochondrial encephalopathy Cutaneous leiomyoma Aplasia of the middle phalanges of the toes Open operculum Pharyngitis Poor coordination Serositis Cervical lymphadenopathy Optic neuritis Neutrophilia Erysipelas Porokeratosis Neuritis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Posterior subcapsular cataract Acute myeloid leukemia Neurological speech impairment Increased intracranial pressure Inability to walk Pigmentary retinopathy Hypoplasia of penis Abnormality of the skin Asthma Full cheeks Sparse scalp hair Macroglossia Delayed eruption of teeth Sleep disturbance Neurodegeneration Clumsiness Gynecomastia Thick vermilion border Wide nose Abnormality of the cardiovascular system Hirsutism Genu valgum Abnormality of eye movement Synophrys Carious teeth Hypogonadotrophic hypogonadism Corneal opacity Pectus carinatum Stroke Abnormal pyramidal sign Camptodactyly of finger Retinopathy Craniosynostosis Microdontia Abnormality of the ribs Mental deterioration Gingival overgrowth Sleep apnea Corneal dystrophy Progressive hearing impairment Cerebral palsy Aortic regurgitation Coxa vara Opacification of the corneal stroma Abnormality of dental enamel Spastic paraparesis Coxa valga Generalized hirsutism Myalgia Progressive cerebellar ataxia Abnormality of epiphysis morphology Cardiomegaly Thickened skin Chronic diarrhea Left ventricular hypertrophy Growth hormone deficiency Encephalocele Abnormal form of the vertebral bodies Mitral regurgitation Split hand Recurrent otitis media Hypertrichosis Progressive neurologic deterioration Myocardial infarction Interphalangeal joint contracture of finger Lumbar hyperlordosis Wide mouth Sensory axonal neuropathy Aplasia/Hypoplasia of the radius Acute monocytic leukemia Clubbing of toes Partial duplication of thumb phalanx Agenesis of corpus callosum Aplasia/Hypoplasia of the iris Low-grade fever Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Hypoplastic anemia Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Decreased fertility in males Absent testis Chorioretinal atrophy Recurrent hypoglycemia Elevated hepatic transaminase Coarse facial features Osteopenia Kyphoscoliosis Dyspnea Glaucoma Prominent forehead Retinal atrophy Recurrent respiratory infections Inguinal hernia Arrhythmia Progressive gait ataxia Hernia Behavioral abnormality Compensated hypothyroidism Alopecia areata Edema Cardiomyopathy Choroideremia Long eyebrows Central heterochromia Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Cerebral atrophy Abnormal carotid artery morphology Almond-shaped palpebral fissure Delayed skeletal maturation



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