Intrauterine growth retardation, and Frontal bossing

Diseases related with Intrauterine growth retardation and Frontal bossing

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

Top matches:

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM ), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018).For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; {210900})

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2; MGRISCE2

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

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

Other less relevant matches:

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

High match IMAGE SYNDROME

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

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

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported.

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B Is also known as autosomal recessive cutis laxa type 2, progeroid type|cutis laxa with progeroid features|arcl2, progeroid type|arcl2b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 2B

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and associated skeletal abnormalities. Aside from cutis laxa, persistent wide fontanels, frontal bossing, slight oxycephaly, downward-slanted palpebral fissures, reversed-V eyebrows, and dental caries are characteristic. Patients with ARCL2 can be divided into 2 major groups: ARCL2A, comprising those with a combined N- and O-linked glycosylation defect (CDG type II), and ARCL2B, those without a metabolic disorder (summary by Morava et al., 2009). Van Maldergem et al. (2008) concluded that ARCL2A should be considered more of a multisystem disorder with cobblestone-like brain dysgenesis manifesting as developmental delay and an epileptic neurodegenerative syndrome rather than purely a dermatologic disorder.For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ). Genetic Heterogeneity of Cutis Laxa Type IIARCL2A is caused by mutation in the ATP6V0A2 gene. ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A Is also known as cutis laxa with growth and developmental delay|cutis laxa, debre type|cutis laxa with bone dystrophy|cutis laxa with joint laxity and retarded development|arcl2|cutis laxa with congenital disorder of glycosylation

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Frontal bossing

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Frontal bossing. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system Scoliosis Postnatal growth retardation Anteverted nares Intellectual disability Macrocephaly Depressed nasal bridge Micrognathia Downslanted palpebral fissures Abnormal facial shape Gastroesophageal reflux Cryptorchidism Strabismus Hip dislocation Generalized hypotonia Microphthalmia Hypospadias Midface retrusion Muscular hypotonia Malar flattening Failure to thrive Short nose Hydrocephalus Microcephaly Joint hypermobility

Rare Symptoms - Less than 30% cases

Craniosynostosis Delayed skeletal maturation Prominent forehead Feeding difficulties Recurrent fractures High palate Ventriculomegaly Redundant skin Growth abnormality Cutis laxa Congenital hip dislocation Large fontanelles Blue sclerae Long philtrum Osteopenia Severe short stature Mandibular prognathia Pes planus Triangular face Bowing of the long bones Epicanthus Coronal craniosynostosis Small for gestational age Intellectual disability, mild Agenesis of corpus callosum Posteriorly rotated ears Hypogonadism Wide anterior fontanel Brachycephaly Hernia Carious teeth Feeding difficulties in infancy Narrow mouth Inguinal hernia Prominent superficial veins Myopia Premature skin wrinkling Colpocephaly Narrow nasal ridge Abnormal glycosylation Motor delay Seizures Brachydactyly Confusion Polymicrogyria Kyphosis Protruding ear Oxycephaly Severe intrauterine growth retardation Lipodystrophy Osteoporosis Brittle hair Deeply set eye Joint laxity Broad forehead Hypotelorism Prominent supraorbital ridges Bulbous nose Coarse hair Pachygyria High myopia Hypoplasia of the maxilla Dandy-Walker malformation Flat face Edema Broad eyebrow Proptosis Visual impairment Communicating hydrocephalus Vertebral compression fractures Vesicoureteral reflux Multiple suture craniosynostosis Crumpled long bones Orbital craniosynostosis Coloboma Blepharophimosis Turricephaly Autistic behavior Low-set, posteriorly rotated ears Autism Abnormal heart morphology Dysarthria Optic atrophy Ventricular septal defect Hypoplasia of the corpus callosum Shallow orbits Central hypotonia Skeletal dysplasia Abnormality of the ribs Behavioral abnormality Joint hyperflexibility Bruising susceptibility Delayed eruption of teeth Cerebral visual impairment Cerebellar vermis hypoplasia Microdontia Abnormal form of the vertebral bodies Hyperthyroidism Abnormality of the metaphysis Hydrops fetalis Wormian bones Abnormality of dental enamel Increased susceptibility to fractures Abnormality of the voice High pitched voice Pathologic fracture Severe hydrops fetalis Pectus excavatum Increased vertebral height Agenesis of cerebellar vermis Intellectual disability, moderate Underdeveloped nasal alae Oligohydramnios Fine hair Encephalocele Scrotal hypoplasia Calvarial skull defect Conical tooth Broad philtrum Bifid nose Upslanted palpebral fissure Cerebellar hypoplasia Hyperkeratosis Wide mouth Short philtrum Platyspondyly Short palm Short foot Depressed nasal ridge Rhizomelia Telecanthus Alopecia Hypoplastic iliac wing Abnormality of the kidney Cardiomyopathy Recurrent infections Skin rash Dilated cardiomyopathy Cafe-au-lait spot Reduced subcutaneous adipose tissue Malar rash Ptosis High forehead Broad nasal tip Abnormality of the dentition Abnormality of the thyroid gland Epicanthus inversus Metopic synostosis Abnormality of the skull base Absent/hypoplastic paranasal sinuses Premature posterior fontanelle closure Prominent palatine ridges Aplasia/Hypoplasia of the frontal sinuses Nystagmus Thin ribs Decreased skull ossification Hypoplastic pelvis Dolichocephaly Adrenal insufficiency Metaphyseal dysplasia Primary adrenal insufficiency Adrenal hypoplasia Metaphyseal cupping Congenital adrenal hypoplasia Short neck Clinodactyly of the 5th finger Hyperlordosis Thick eyebrow Epiphyseal dysplasia Decreased testicular size Short ribs Pointed chin Coxa vara Scapular winging Spina bifida occulta Short thorax Slender long bone Short 5th finger Bilateral cryptorchidism Hypercalcemia 11 pairs of ribs Cleft palate Metaphyseal chondrodysplasia Severe platyspondyly Metaphyseal cupping of metacarpals Distal shortening of limbs Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Hypoplasia of the calcaneus Hearing impairment Sensorineural hearing impairment Micropenis Hypercalciuria Hydronephrosis Respiratory tract infection Muscular dystrophy Micromelia Growth hormone deficiency Bilateral sensorineural hearing impairment Abnormality of the genital system Hypocalcemia Nephrocalcinosis Short long bone Abnormal isoelectric focusing of serum transferrin


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Short distal phalanx of finger, related diseases and genetic alterations