Intrauterine growth retardation, and Bulbous nose

Diseases related with Intrauterine growth retardation and Bulbous nose

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

Top matches:

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

XQ27.3Q28 DUPLICATION SYNDROME Is also known as trisomy xq27.3q28|dup(x)(q27.3q28)|xq27.3-q28 microduplication syndrome|trisomy xq27.3-q28

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about XQ27.3Q28 DUPLICATION SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Other less relevant matches:

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

Infantile hypotonia with psychomotor retardation and characteristic facies-2 is a severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some patients may have seizures that can be controlled; brain structure is typically normal (summary by Shamseldin et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypotonia with psychomotor retardation and characteristic facies, see IHPRF1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

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

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO 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

X-linked syndromic mental retardation-33 is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, and characteristic facial features (summary by O'Rawe et al., 2015).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-GLOBAL DEVELOPMENT DELAY-FACIAL DYSMORPHISM-SACRAL CAUDAL REMNANT SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Bulbous nose

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Thin upper lip vermilion Low-set ears Seizures Joint laxity Failure to thrive Short stature Postnatal growth retardation Broad forehead Hypertelorism Scoliosis Short neck Epicanthus Hearing impairment Delayed speech and language development Micrognathia Protruding ear Frontal bossing Deeply set eye Small for gestational age Anteverted nares Abnormality of the skeletal system Ptosis Thickened helices Triangular face Joint hypermobility Hypotelorism Hypoplasia of the corpus callosum Hip dislocation Muscular hypotonia of the trunk Long philtrum Macrotia Wide nasal bridge Ventriculomegaly Intellectual disability, severe Prominent forehead Downslanted palpebral fissures Muscular hypotonia Feeding difficulties Cryptorchidism Brachydactyly Clinodactyly of the 5th finger Osteopenia

Rare Symptoms - Less than 30% cases

Malar flattening Brachycephaly Midface retrusion Mandibular prognathia Clinodactyly Dolichocephaly Gastroesophageal reflux Thick eyebrow Everted lower lip vermilion Spina bifida occulta Congenital hip dislocation Kyphosis Single transverse palmar crease Abnormal heart morphology Talipes Hydronephrosis Ventricular septal defect Microphthalmia Depressed nasal bridge Myopia Short nose Nystagmus High palate Prominent nasal bridge High forehead Posteriorly rotated ears Constipation Dystonia Broad nasal tip Pectus excavatum Strabismus Open mouth Pointed chin Hydrocephalus Agenesis of corpus callosum Abnormality of the pinna Autistic behavior Severe global developmental delay Thick lower lip vermilion Failure to thrive in infancy Spasticity Decreased testicular size Small hand Thin vermilion border Cerebellar hypoplasia Eczema Ataxia Delayed skeletal maturation Intellectual disability, mild Renal agenesis Thick vermilion border Poor speech Abnormality of the dentition Caesarian section Atrial septal defect Cardiomyopathy Sleep-wake cycle disturbance Short digit Talipes equinovarus Narrow mouth Hypothyroidism Motor delay Proteinuria Gait imbalance Toenail dysplasia Nasolacrimal duct obstruction Blepharophimosis Microtia Depressed nasal tip Dilated cardiomyopathy Delayed myelination Microdontia Recurrent otitis media Aplasia cutis congenita Spastic diplegia Amblyopia Cleft palate Neonatal respiratory distress Increased vertebral height Thin ribs Rocker bottom foot Hypoplasia of the ulna Prominent protruding coccyx Broad chin Mild short stature Short thorax Thickened ears Decreased fertility Prominent coccyx Slender long bone Disproportionate short stature Abnormality of the elbow Talipes cavus equinovarus Short 5th finger Hypoplastic pelvis Scapular winging Joint dislocation Macular degeneration Abnormality of the cerebral vasculature Enlarged thorax Hypoplastic ischia Horizontal ribs Hypoplastic pubic bone Short long bone Abnormality of dental enamel Scrotal hypoplasia Flat occiput Abnormality of the gastrointestinal tract Microretrognathia Cerebellar vermis hypoplasia Hip dysplasia Holoprosencephaly Abnormal dermatoglyphics Deep philtrum Patent foramen ovale Trigonocephaly Short ribs Absent septum pellucidum Aplasia/Hypoplasia of the thumb High, narrow palate Retinoblastoma Finger clinodactyly Anteverted ears Hirsutism Leukocoria Tremor Long face Abnormality of eye movement Synophrys Attention deficit hyperactivity disorder Sparse hair Dysphagia Anxiety Proptosis Reduced tendon reflexes Wide anterior fontanel Oral-pharyngeal dysphagia Multiple bladder diverticula Torticollis Widely spaced teeth Abnormality of the outer ear Cerebellar atrophy Heart murmur Prominent occiput Congenital hypothyroidism Hypoplasia of teeth Patellar hypoplasia Epicanthus inversus Abnormal palmar dermatoglyphics Neonatal asphyxia Chronic otitis media Webbed neck Cataract Cognitive impairment Prominent supraorbital ridges Abnormality of cardiovascular system morphology Hernia Micropenis Wide mouth Coloboma Finger syndactyly Delayed gross motor development Iris coloboma Sacral dimple Supernumerary nipple Retinal dystrophy Narrow face Redundant skin Hypoplasia of the brainstem Cortical gyral simplification Limb hypertonia Decreased head circumference Osteoporosis Recurrent fractures Hypoplasia of the maxilla Blue sclerae Bowing of the long bones Large fontanelles Cutis laxa Growth abnormality Premature skin wrinkling Sloping forehead Prominent superficial veins Colpocephaly Narrow nasal ridge Abnormal glycosylation Cerebral atrophy Absent speech Encephalopathy Short philtrum Smooth philtrum Inability to walk Dyskinesia Tapered finger Lissencephaly Arthrogryposis multiplex congenita Brain atrophy Decreased serum testosterone level Obesity Hypogonadism Neonatal hypotonia Short foot Specific learning disability Gynecomastia Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Truncal obesity Sparse body hair Increased circulating gonadotropin level Abdominal obesity Polyhydramnios Primary testicular failure Gait disturbance Hyperactivity Cerebral cortical atrophy Autism Febrile seizures Narrow forehead Hallux valgus Small earlobe Flexion contracture Hyperreflexia Hypertonia Sleep disturbance Prominent nose Abnormality of the metaphysis Pelvic kidney Macular dystrophy Anal stenosis Syringomyelia Narrow nose Pulmonary artery stenosis Eyelid coloboma Rectovaginal fistula Bicornuate uterus Labial hypoplasia Peripheral pulmonary artery stenosis Duane anomaly Lop ear 4-5 toe syndactyly Clitoral hypertrophy Mitral atresia Respiratory distress Dilatation Hypospadias Severe short stature Skeletal dysplasia Pes planus Hyperlordosis Joint hyperflexibility Micromelia Confusion Delayed eruption of teeth Ectopic kidney Hypoplasia of the radius Esotropia Appendicular hypotonia Intellectual disability, profound Choreoathetosis Severe muscular hypotonia Plagiocephaly Infantile muscular hypotonia Tented upper lip vermilion Cachexia Global brain atrophy Hip contracture Facial hypotonia Profound global developmental delay Generalized tonic seizures Profound static encephalopathy Bicuspid aortic valve Renal insufficiency Syndactyly Telecanthus Craniosynostosis Abnormal cardiac septum morphology Toe syndactyly Anal atresia Wide nose Vesicoureteral reflux Spina bifida Horseshoe kidney Aortic regurgitation Abnormality of the septum pellucidum


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