Frontal bossing, and Abnormality of the eye

Diseases related with Frontal bossing and Abnormality of the eye

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


Top matches:

Low match ISOLATED SCAPHOCEPHALY


Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.

ISOLATED SCAPHOCEPHALY Is also known as isolated dolichocephaly|non-syndromic sagittal synostosis

Related symptoms:

  • Frontal bossing
  • Dolichocephaly
  • Increased intracranial pressure
  • Prominent occiput


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED SCAPHOCEPHALY

Low match OSTEOGENESIS IMPERFECTA TYPE 1


Osteogenesis imperfecta type I is a mild type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures.

OSTEOGENESIS IMPERFECTA TYPE 1 Is also known as van der hoeve syndrome|adair-dighton syndrome|non-deforming osteogenesis imperfecta|oi type 1|mild osteogenesis imperfecta

Related symptoms:

  • Short stature
  • Frontal bossing
  • Mandibular prognathia
  • Dolichocephaly
  • Wormian bones


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 1

Low match ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB


IGHD type IV is an autosomal recessive disorder characterized by early and severe growth failure (height SDS up to -7.4), a blunted growth hormone (GH) response to different provocation tests and low insulin-like growth factor-I (IGF1 ) and IGF-binding protein-3 (IGFBP3 ) concentrations, and a good response to growth hormone treatment (summary by Alatzoglou et al., 2014).For general phenotypic information and a discussion of genetic heterogeneity of IGHD, see {262400}.

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB Is also known as ighd1b, formerly|congenital isolated growth hormone deficiency type ib|congenital ighd type ib|congenital isolated gh deficiency type ib|dwarfism of sindh|isolated growth hormone deficiency, type ib, formerly

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IB

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Other less relevant matches:

Low match ISOLATED PLAGIOCEPHALY


Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

Low match ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B


Patients with IGHD type IB are characterized by low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to GH therapy.See entry {262400} for a summary of the different types of IGHD.

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B Is also known as dwarfism of sindh|ighd ib

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Obesity
  • Delayed skeletal maturation


SOURCES: MESH OMIM MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB; IGHD1B

Low match TRICHO-DENTO-OSSEOUS SYNDROME


Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.

TRICHO-DENTO-OSSEOUS SYNDROME Is also known as tdo syndrome

Related symptoms:

  • Macrocephaly
  • Frontal bossing
  • Skeletal dysplasia
  • Dolichocephaly
  • Carious teeth


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHO-DENTO-OSSEOUS SYNDROME

Low match HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS


Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Feeding difficulties
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME; HADDTS

Low match ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA


Isolated growth hormone deficiency type V is characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary (Argente et al., 2014).

ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA Is also known as congenital ighd type ia|congenital isolated growth hormone deficiency type ia|congenital isolated gh deficiency type ia

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Frontal bossing
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY TYPE IA

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Low match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Top 5 symptoms//phenotypes associated to Frontal bossing and Abnormality of the eye

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Dolichocephaly Uncommon - Between 30% and 50% cases
Growth hormone deficiency Uncommon - Between 30% and 50% cases
Macrocephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Obesity Delayed skeletal maturation Truncal obesity

Rare Symptoms - Less than 30% cases


Prominent forehead Kyphosis Scoliosis Proportionate short stature Mandibular prognathia Severe short stature Hypoplasia of the maxilla Mild microcephaly Severe postnatal growth retardation High palate Intellectual disability, severe Intellectual disability, mild Oligomenorrhea Pectus excavatum Postnatal growth retardation Pectus carinatum Prominent nasal bridge Narrow chest Arachnodactyly Long face Slender build Narrow face Joint hyperflexibility Vertebral wedging Ovoid vertebral bodies Beaking of vertebral bodies Sprengel anomaly Disproportionate short stature Bowing of the long bones Abnormal form of the vertebral bodies Joint stiffness Growth abnormality Hyperlordosis Brachydactyly Depressed nasal bridge Inability to walk Long foot Abnormality of the musculature Abnormality of the sternum Nasal speech Microcephaly Feeding difficulties Deeply set eye Midface retrusion Abdominal obesity Precocious atherosclerosis Atherosclerosis Visual field defect Plagiocephaly Facial asymmetry Abnormality of eye movement Strabismus Carious teeth Hearing impairment Global developmental delay Bowing of the legs Increased susceptibility to fractures Wormian bones Prominent occiput Increased intracranial pressure Skeletal dysplasia Microdontia Retrognathia Dry hair Gait ataxia Cerebellar atrophy Motor delay Delayed speech and language development Generalized hypotonia Obliteration of the calvarial diploe Abnormality of the mastoid Fragile nails Hypoplasia of dental enamel Taurodontia Amelogenesis imperfecta Curly hair Thickened calvaria Widely spaced teeth Increased bone mineral density Abnormality of the hair Acromesomelia



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