Frontal bossing, and Thick eyebrow

Diseases related with Frontal bossing and Thick eyebrow

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


Top matches:

High match DWARFISM WITH TALL VERTEBRAE


Related symptoms:

  • Short stature
  • Depressed nasal bridge
  • Intrauterine growth retardation
  • Frontal bossing
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about DWARFISM WITH TALL VERTEBRAE

High match XQ25 MICRODUPLICATION SYNDROME


Xq25 duplication syndrome is an X-linked neurodevelopmental disorder characterized by delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected (summary by Leroy et al., 2016).

XQ25 MICRODUPLICATION SYNDROME Is also known as xq25 microtriplication|dup(x)(q25)

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about XQ25 MICRODUPLICATION SYNDROME

High match MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D


The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

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Other less relevant 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 HYPERTELORISM, TEEBI TYPE


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

High match 3M SYNDROME


3M syndrome is a primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.

3M SYNDROME Is also known as le merrer syndrome|3-m syndrome|3m syndrome|gloomy face syndrome|yakut short stature syndrome|dolichospondylic dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3M SYNDROME

High match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

High match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

High match FILIPPI SYNDROME


Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.

FILIPPI SYNDROME Is also known as scott craniodigital syndrome with mental retardation|syndactyly, type i, with microcephaly and mental retardation|type 1 syndactyly-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FILIPPI SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and Thick eyebrow

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Clinodactyly

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly of the 5th finger Brachydactyly Low-set ears Abnormal facial shape Global developmental delay Seizures Short nose Broad forehead Growth delay Ptosis Everted lower lip vermilion Sleep disturbance Bulbous nose Muscular hypotonia Depressed nasal bridge Intrauterine growth retardation Anteverted nares Long philtrum Malar flattening Small for gestational age Finger clinodactyly Hypertelorism Wide mouth Thin upper lip vermilion Mandibular prognathia Severe short stature Prominent nasal bridge Coarse facial features Highly arched eyebrow Wide nasal bridge Ventricular septal defect Intellectual disability, severe Widely spaced teeth High palate Micrognathia Protruding ear Microcephaly Thin vermilion border Short chin Strabismus Brachycephaly Finger syndactyly Synophrys Prominent forehead Smooth philtrum Micropenis Hyperlordosis Delayed skeletal maturation Pectus excavatum Hypospadias Delayed speech and language development Dolichocephaly Abnormality of the skeletal system Postnatal growth retardation Behavioral abnormality Open mouth Hyperactivity Autism Aggressive behavior Autistic behavior Hip dislocation

Rare Symptoms - Less than 30% cases


Myopia Atrial septal defect Downslanted palpebral fissures Hernia Generalized hirsutism Feeding difficulties Constipation Hypoplasia of penis Paraplegia Sparse hair Hypoglycemia Gait ataxia Rocker bottom foot Hypogonadism Proptosis Anteverted ears High forehead Single transverse palmar crease Trigonocephaly Polyphagia Supernumerary nipple Visual impairment Deep philtrum Esotropia Wide nose Gastroesophageal reflux Scoliosis Hypermetropia Respiratory distress Short foot Kyphosis Small hand Muscular hypotonia of the trunk Joint laxity Hydronephrosis Retrognathia Long eyelashes Hearing impairment Ataxia Spina bifida occulta Short thorax Slender long bone Short 5th finger Hypoplastic pelvis Increased vertebral height Hypoplasia of the corpus callosum Failure to thrive Hypertrichosis Thick lower lip vermilion Hirsutism Thick vermilion border Absent speech Flexion contracture Scapular winging Epicanthus Pointed chin Short ribs Cerebellar atrophy Joint hypermobility Cognitive impairment Decreased testicular size Triangular face Pes planus Obesity Hypoplastic pubic bone Failure to thrive in infancy Narrow naris Horizontal ribs Congenital microcephaly Misalignment of teeth Hyperinsulinemia Fetal akinesia sequence Impulsivity Akinesia Delayed ability to walk Broad columella Limited elbow extension Echolalia Hyperventilation High anterior hairline Low hanging columella Narrow nose Hypoventilation Limb hypertonia Short humerus Cutaneous syndactyly of toes Clinodactyly of the 5th toe Aplastic/hypoplastic toenail Wide intermamillary distance Camptodactyly Apnea Arthrogryposis multiplex congenita Frontal hirsutism Talipes Inability to walk Polyhydramnios Hyperhidrosis Depressivity Tapered finger Respiratory insufficiency Talipes equinovarus Pterygium Narrow forehead Decreased fetal movement Short palpebral fissure Excessive salivation Exotropia Increased body weight Microretrognathia Sleep apnea Enlarged epiphyses Adducted thumb Poor suck Neonatal hypotonia Hyperinsulinemic hypoglycemia Intellectual disability, moderate Abnormality of the philtrum Self-injurious behavior Underdeveloped nasal alae Limitation of joint mobility Hip dysplasia Epileptic encephalopathy Dental crowding Stereotypy Low anterior hairline Hypodontia Absence seizures Sandal gap Infantile muscular hypotonia Tented upper lip vermilion Focal impaired awareness seizure Language impairment Enlarged thorax Microdontia Toe syndactyly Polydactyly Neurological speech impairment Syndactyly Dystonia Hypertonia Optic atrophy Spasticity Cupped ear Cleft palate Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Short attention span Specific learning disability Ambiguous genitalia Multiple pterygia Abnormality of digit Temperature instability Narrow palm Intermittent hyperventilation Short philtrum Motor delay Fever Limb dystonia Cutaneous finger syndactyly Vomiting Encephalopathy EEG abnormality Feeding difficulties in infancy Microtia Facial asymmetry Narrow nasal bridge Small nail Cutaneous syndactyly Fine hair Decreased body weight Postnatal microcephaly Bilateral single transverse palmar creases Febrile seizures Focal-onset seizure Mutism Aphasia Prominent nose Downturned corners of mouth Short palm Short middle phalanx of finger Dysphasia Astigmatism Hypoplastic ischia Broad eyebrow Abnormality of the cerebral vasculature Pigmentary retinopathy Peripheral neuropathy Alopecia Rod-cone dystrophy Hypothyroidism Pallor Distal muscle weakness Spastic paraplegia Delayed puberty Peripheral axonal neuropathy Retinal degeneration Distal amyotrophy Progressive cerebellar ataxia Growth hormone deficiency Sparse scalp hair Nystagmus Clumsiness Gynecomastia Horizontal nystagmus Hypogonadotrophic hypogonadism Sensory axonal neuropathy Chorioretinal atrophy Retinal atrophy Progressive gait ataxia Recurrent hypoglycemia Titubation Alopecia areata Choroideremia Long eyebrows Central heterochromia Muscle weakness Cellular metachromasia Arrhythmia Dysarthria Coxa vara Cerebellar hypoplasia Posteriorly rotated ears Anxiety Short distal phalanx of finger Cerebellar vermis hypoplasia Gingival overgrowth Schizophrenia Sparse eyebrow Obsessive-compulsive behavior Neurodevelopmental delay Long nose Facial hypotonia Hepatomegaly Dysphagia Ovoid thoracolumbar vertebrae Diarrhea Splenomegaly Difficulty walking Joint stiffness Chronic diarrhea Progressive hearing impairment Drooling Recurrent upper respiratory tract infections Coarse hair Growth abnormality Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Patent ductus arteriosus Umbilical hernia Abnormality of the elbow Joint hyperflexibility Holoprosencephaly Abnormal dermatoglyphics Patent foramen ovale Absent septum pellucidum Aplasia/Hypoplasia of the thumb Abnormality of the gastrointestinal tract Thickened helices Retinoblastoma Leukocoria Hydrocephalus Dilatation Midface retrusion Skeletal dysplasia Micromelia Hypotelorism Confusion Delayed eruption of teeth Abnormality of the metaphysis Narrow face Congenital hip dislocation Abnormality of dental enamel Joint dislocation Short long bone Neonatal respiratory distress Hypoplasia of the ulna Mild short stature Decreased fertility Disproportionate short stature Thin ribs Wide anterior fontanel Webbed neck Cleft lip Long palpebral fissure Craniosynostosis Oral cleft Broad nasal tip Round face Tetralogy of Fallot Congenital diaphragmatic hernia Omphalocele Short toe Atrioventricular block Heart murmur Bilateral cryptorchidism Preauricular pit Ectopic kidney High hypermetropia Broad palm Iris coloboma Natal tooth Shawl scrotum Sprengel anomaly Lipoma Widow's peak Abnormality of the helix Advanced eruption of teeth Dimple chin Female pseudohermaphroditism Cataract Microphthalmia Abnormality of cardiovascular system morphology Abnormal heart morphology Coloboma 2-4 toe syndactyly



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