Growth delay, and Frontal bossing

Diseases related with Growth delay and Frontal bossing

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

Top matches:

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

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

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

Other less relevant matches:

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

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

Pilarowski-Bjornsson syndrome is an autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. Some patients may have seizures. The phenotype is somewhat variable (summary by Pilarowski et al., 2017).

PILAROWSKI-BJORNSSON SYNDROME; PILBOS Is also known as developmental delay and speech apraxia with or without seizures

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PILAROWSKI-BJORNSSON SYNDROME; PILBOS

The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

THREE M SYNDROME 2; 3M2 Is also known as 3m syndrome 2

Related symptoms:

  • Short stature
  • Frontal bossing
  • Anteverted nares
  • Short neck
  • Long philtrum


SOURCES: OMIM MESH MENDELIAN

More info about THREE M SYNDROME 2; 3M2

Top 5 symptoms//phenotypes associated to Growth delay and Frontal bossing

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Dolichocephaly Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Pointed chin Uncommon - Between 30% and 50% cases
Truncal obesity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Severe short stature Growth hormone deficiency Hyperlordosis Obesity

Rare Symptoms - Less than 30% cases

Clinodactyly Depressed nasal bridge Midface retrusion Protruding ear Triangular face Anteverted nares Short neck Slender long bone Macrocephaly Intellectual disability Malar flattening Long philtrum Proportionate short stature Scoliosis Postnatal growth retardation Hearing impairment Prominent nasal tip Scapular winging Thick vermilion border Facial hyperostosis Small for gestational age Diaphyseal dysplasia Diaphyseal sclerosis Diaphyseal thickening Hip dysplasia Short thorax Craniofacial hyperostosis Increased vertebral height Sensorineural hearing impairment Abnormality of the ribs Hitchhiker thumb Conductive hearing impairment Coarse facial features Hyperostosis Flared metaphysis Wide nasal bridge Aplasia of the 2nd finger Moderate hearing impairment Synophrys Split foot Abnormality of the nail Low anterior hairline Split hand Tapered finger Stenosis of the external auditory canal Optic atrophy Apraxia Abnormality of the skeletal system Oligomenorrhea Joint stiffness Prominent forehead Kyphosis Brachydactyly Mild microcephaly Severe postnatal growth retardation Microcephaly Abnormal form of the vertebral bodies Abdominal obesity Precocious atherosclerosis Atherosclerosis Bowing of the legs Increased susceptibility to fractures Wormian bones Mandibular prognathia Joint hyperflexibility Bowing of the long bones Broad eyebrow Downslanted palpebral fissures Dermal translucency Periorbital fullness Speech apraxia Developmental regression Autism Immunodeficiency Generalized hypotonia Disproportionate short stature Global developmental delay Seizures Acromesomelia Vertebral wedging Ovoid vertebral bodies Beaking of vertebral bodies Sprengel anomaly Prominent calcaneus


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