Frontal bossing, and High forehead

Diseases related with Frontal bossing and High forehead

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


Top matches:

High match SIX2-RELATED FRONTONASAL DYSPLASIA


SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

High match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

High match 1Q44 MICRODELETION SYNDROME


1q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.

1Q44 MICRODELETION SYNDROME Is also known as del(1)(q44)|monosomy 1q44

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 1Q44 MICRODELETION SYNDROME

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Other less relevant matches:

High match DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY


Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

High match MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME


Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME Is also known as megalencephaly-cutis marmorata telangiectatica congenita syndrome|macrocephaly-capillary malformation syndrome|mcmtc|mcap|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita syndrome|mcm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME

High match 17P13.3 MICRODUPLICATION SYNDROME


17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.

17P13.3 MICRODUPLICATION SYNDROME Is also known as 17p13.3 duplication syndrome|dup(17)(p13.3)|trisomy 17p13.3

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 17P13.3 MICRODUPLICATION SYNDROME

High match NEONATAL ADRENOLEUKODYSTROPHY


Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

High match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

High match 16Q24.3 MICRODELETION SYNDROME


16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

High match MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME


Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME Is also known as meg-pmg-megacc syndrome|mpph syndrome|megalencephaly, polymicrogyria, mega corpus callosum syndrome|mpph|megalencephaly, mega corpus callosum, and complete lack of motor development

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEGALENCEPHALY-POLYMICROGYRIA-POSTAXIAL POLYDACTYLY-HYDROCEPHALUS SYNDROME

Top 5 symptoms//phenotypes associated to Frontal bossing and High forehead

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia High palate Ventriculomegaly Muscular hypotonia Anteverted nares Seizures Hypoplasia of the corpus callosum Microcephaly Macrocephaly Micrognathia Strabismus Telecanthus Short stature Delayed speech and language development Scoliosis Visual impairment Growth delay Epicanthus Nystagmus Optic atrophy Hydrocephalus Short nose Upslanted palpebral fissure Feeding difficulties Cataract Ptosis

Rare Symptoms - Less than 30% cases


Long philtrum Downslanted palpebral fissures Aciduria Failure to thrive Prominent forehead Deeply set eye Esotropia Mitral regurgitation Kyphosis Ventricular septal defect Optic nerve hypoplasia Hip dysplasia Long face Muscular hypotonia of the trunk Absent speech Myopia Hearing impairment Wide mouth Large for gestational age Pointed chin Narrow mouth Autism Preauricular skin tag Cerebellar atrophy Wide nasal bridge Low-set ears Polymicrogyria Biparietal narrowing Motor delay Sparse hair Intellectual disability, severe Small for gestational age Smooth philtrum Wide anterior fontanel Abnormal cardiac septum morphology Gait ataxia Mandibular prognathia Hypertrophic cardiomyopathy Abnormality of the thyroid gland Pectus carinatum Congenital cataract Delayed puberty Intestinal malrotation Abnormality of the foot Peripheral axonal neuropathy Epicanthus inversus Distal amyotrophy Inability to walk Increased serum lactate Broad nasal tip Absence seizures Delayed skeletal maturation Metopic synostosis Cardiomyopathy Abnormal palate morphology Dolichocephaly Abnormality of movement Retinal dystrophy High, narrow palate Abnormality of the skull base Abnormality of retinal pigmentation Decreased liver function Bilateral single transverse palmar creases Abnormality of neuronal migration Abnormality of the skeletal system Adrenal insufficiency Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Ataxia Spasticity Peripheral neuropathy Cryptorchidism Abnormality of mitochondrial metabolism Abnormality of the kidney Dysphagia Long palpebral fissure Postaxial polydactyly Postaxial hand polydactyly Intellectual disability, profound Pachygyria Knee flexion contracture Cortical dysplasia Infantile spasms Thoracic scoliosis Blindness Megalencephaly Abnormally large globe Dilation of lateral ventricles Abnormal localization of kidney Cavum septum pellucidum Abnormal nasal morphology Capillary malformation Vascular ring Polydactyly Atrial septal defect Abnormality of the liver Highly arched eyebrow Posteriorly rotated ears Thrombocytopenia Intellectual disability, moderate Protruding ear Autistic behavior Dilated cardiomyopathy Astigmatism Thick vermilion border Triangular face Skeletal muscle atrophy Intrauterine growth retardation Chronic otitis media Proximal placement of thumb Abnormal hair pattern Increased mean corpuscular volume Colpocephaly Single median maxillary incisor Periventricular gray matter heterotopia Severe global developmental delay EEG abnormality Developmental regression Sparse and thin eyebrow Adducted thumb Spotty hypopigmentation Neoplasm Profound global developmental delay Hypopigmented skin patches Abnormality of cardiovascular system morphology Arrhythmia Hypopigmentation of the skin Infantile muscular hypotonia Finger syndactyly Toe syndactyly Facial asymmetry Joint hyperflexibility Short distal phalanx of finger Full cheeks Arnold-Chiari malformation Hand polydactyly Tented upper lip vermilion Postnatal microcephaly Cutis marmorata Dystonia Vesicoureteral reflux Prominent metopic ridge Optic disc hypoplasia Exaggerated cupid's bow Thin vermilion border Synophrys Generalized tonic-clonic seizures Agenesis of corpus callosum Anisopoikilocytosis Microphthalmia Acidosis Lactic acidosis Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Underdeveloped nasal alae Aplasia/Hypoplasia of the cerebellum Hypermelanotic macule Low-set, posteriorly rotated ears Anemia Wide nose Overgrowth Hypoplasia of penis Tall stature Brachydactyly Congenital hip dislocation Lissencephaly Disproportionate tall stature Talipes equinovarus Aplasia/Hypoplasia of the frontal sinuses Prominent palatine ridges Premature posterior fontanelle closure Sensorineural hearing impairment Absent/hypoplastic paranasal sinuses Hyperreflexia Abnormality of metabolism/homeostasis Horseshoe kidney Attention deficit hyperactivity disorder Recurrent infections Telangiectasia of the skin Osteopenia Foot polydactyly Nevus flammeus Arteriovenous malformation Cerebral ischemia Visceral angiomatosis Abnormality of nervous system morphology Asymmetric growth Talipes Short neck Micropenis Proptosis Behavioral abnormality Midface retrusion Hernia Inguinal hernia Clinodactyly of the 5th finger Severe short stature Hyperactivity Thick corpus callosum



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