Global developmental delay, and Round face

Diseases related with Global developmental delay and Round face

In the following list you will find some of the most common rare diseases related to Global developmental delay and Round face that can help you solving undiagnosed cases.

Top matches:

1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Other less relevant matches:

Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (OMIM ); perinatal lethal OI type II, also known as congenital OI (OMIM ); OI type III, a progressively deforming form with normal sclerae (OMIM ); and OI type IV, with normal sclerae (OMIM ). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (OMIM ) and COL1A2 (OMIM ). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.

OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8 Is also known as oi, type viii

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Kyphosis
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VIII; OI8

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

High match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Global developmental delay and Round face

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Round face. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Short stature Low-set ears Intrauterine growth retardation Generalized hypotonia Wide nasal bridge Intellectual disability, severe Obesity Brachycephaly Full cheeks High palate Abnormal facial shape Micrognathia Muscular hypotonia

Rare Symptoms - Less than 30% cases

Scoliosis Inguinal hernia Small hand Recurrent fractures Cerebellar hypoplasia Preauricular skin tag Low-set, posteriorly rotated ears Delayed speech and language development Macrocephaly Horizontal eyebrow Short neck Hypoplasia of the corpus callosum Clinodactyly of the 5th finger Tapered finger Neonatal hypotonia Synophrys Abnormality of cardiovascular system morphology Downturned corners of mouth Short foot Joint laxity Motor delay Hearing impairment Smooth philtrum Microretrognathia Spasticity Depressed nasal bridge Pneumonia Multifocal cerebral white matter abnormalities EEG abnormality Autistic behavior Large fleshy ears Abnormality of brain morphology Macrotia Congenital stationary night blindness Malignant hyperthermia Prominent nasal bridge Underdeveloped supraorbital ridges Autism Bulbous nose Congenital hypothyroidism Short palm Narrow forehead Generalized myoclonic seizures Strabismus Abnormality of the pinna Thin upper lip vermilion Cerebral cortical atrophy Polyphagia Metaphyseal sclerosis Restrictive cardiomyopathy Partial agenesis of the corpus callosum Narrow nose Cortical gyral simplification Mild short stature Sloping forehead Prominent nose Myopia Cleft palate Nystagmus Hypoplastic superior helix Abnormality of the voice Long penis Snoring Overfolding of the superior helices Speech articulation difficulties Temporomandibular joint ankylosis Mandibular condyle hypoplasia Glossoptosis Question mark ear Mandibular condyle aplasia Joint hyperflexibility Cleft at the superior portion of the pinna Downslanted palpebral fissures Severe global developmental delay Upper airway obstruction Ankylosis Finger syndactyly Abnormality of bone mineral density Feeding difficulties Cat cry Respiratory distress Posteriorly rotated ears Narrow mouth Gastroesophageal reflux Apnea Bulbar palsy Hirsutism Dental malocclusion Dental crowding High pitched voice Poor suck Cupped ear Central apnea Hypotelorism Craniosynostosis CNS hypomyelination Postnatal growth retardation Abnormality of the liver Hepatic failure Hepatic steatosis Cholestasis Decreased liver function Hyperextensible skin Elevated hepatic transaminase Kyphosis Osteoporosis Proptosis Osteopenia Platyspondyly Narrow chest Triangular face Hydronephrosis Sensorineural hearing impairment Blue sclerae Recurrent infections Prominent forehead Thin vermilion border Aplasia/Hypoplasia of the corpus callosum Anteverted nares Short nose Immunodeficiency Recurrent respiratory infections Failure to thrive Retrognathia Respiratory tract infection Everted lower lip vermilion Decreased antibody level in blood Short chin Agammaglobulinemia Chronic bronchitis Short metacarpal Wide anterior fontanel Severe short stature Slender finger Febrile seizures Postnatal microcephaly Progressive microcephaly Low anterior hairline Severe muscular hypotonia Truncal obesity Overweight Abnormality of the cerebral white matter Mild microcephaly Bruxism Unilateral cleft lip Abnormality of the cerebellar vermis Cardiomyopathy Absent speech Agenesis of corpus callosum Cleft upper lip Short philtrum Wormian bones Radial bowing Disproportionate short-limb short stature Increased susceptibility to fractures Delayed cranial suture closure Femoral bowing Tibial bowing Slender long bone Thin ribs Barrel-shaped chest Developmental regression Vertebral compression fractures Decreased skull ossification Multiple prenatal fractures Externally rotated/abducted legs Type 1 collagen overmodification Hyperactivity Cleft lip Misalignment of teeth


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