Global developmental delay, and Bulbous nose

Diseases related with Global developmental delay and Bulbous nose

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

Top matches:

Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HAMEL CEREBRO-PALATO-CARDIAC SYNDROME

Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

Other less relevant 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

Lissencephaly ('smooth brain') results from migrational arrest of cortical neurons short of their normal destination, and can result in profound mental retardation and seizures. In X-linked lissencephaly-1, affected males generally have more a severe phenotype compared to females. DCX mutations cause classic lissencephaly with mental retardation in hemizygous males and a milder phenotype known as subcortical band heterotopia in females, sometimes in the same family. The subcortical lamina heterotopia found in heterozygous females is also referred to as 'double cortex' (DC) syndrome (des Portes et al., 1997).There are several X-linked loci that affect neuronal migration, including the Aicardi locus (OMIM ).

LISSENCEPHALY, X-LINKED, 1; LISX1 Is also known as xlis|lissencephaly and agenesis of corpus callosum

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY, X-LINKED, 1; LISX1

BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE Is also known as bmrs, mkb type|bmrs, maat-kievit-brunner type|blepharophimosis-intellectual disability syndrome, maat-kievit-brunner type|blepharophimosis-mental retardation syndrome, maat-kievit-brunner type|x-linked ohdo syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Micrognathia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, MKB TYPE

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 7; MRD7

Top 5 symptoms//phenotypes associated to Global developmental delay and Bulbous nose

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Feeding difficulties Seizures Depressed nasal bridge Abnormal facial shape Micrognathia Deeply set eye Dysarthria Muscular hypotonia Delayed speech and language development Spasticity Wide nasal bridge Narrow forehead Failure to thrive Dystonia

Rare Symptoms - Less than 30% cases

Neonatal hypotonia Long philtrum Intellectual disability, mild Intrauterine growth retardation Cryptorchidism Thin vermilion border Small for gestational age Ataxia Intellectual disability, severe Hypoplasia of the corpus callosum High palate Lactic acidosis Ptosis Febrile seizures Acidosis Severe global developmental delay Hypertonia Anteverted nares Cataract Wide mouth Coarse facial features Sparse hair Motor delay Gait disturbance Narrow mouth Hypertrophic cardiomyopathy Dilated cardiomyopathy Abnormality of the pinna Facial asymmetry Macrotia Autism Cerebral cortical atrophy Gliosis Increased serum lactate Neuronal loss in central nervous system Left ventricular noncompaction Hyperalaninemia Flexion contracture Autistic behavior Downslanted palpebral fissures Hyperreflexia Decreased body weight Smooth philtrum Thickened helices Hallux valgus Joint hypermobility Triangular face Prominent nose Cafe-au-lait spot Eczema Scrotal hypoplasia Failure to thrive in infancy Cardiomyopathy Thick lower lip vermilion Midface retrusion Hypotelorism Hyperactivity Talipes equinovarus Epicanthus Protruding tongue Blepharophimosis Tetraplegia Waddling gait Frontal bossing Spastic tetraplegia Open mouth Abnormality of the periventricular white matter Spastic paraplegia Genu recurvatum Facial hypotonia Excessive salivation Acetabular dysplasia Everted upper lip vermilion Hypertelorism Paraplegia Short nose Ventriculomegaly Underdeveloped nasal alae Adducted thumb Tented upper lip vermilion Absent speech Infantile muscular hypotonia Postnatal microcephaly Aciduria Babinski sign Microphthalmia Pes planus Short philtrum Delayed myelination Metabolic acidosis Hepatic failure High forehead Inability to walk Sloping forehead Carcinoma Thick vermilion border Abnormal posturing Craniofacial dystonia Retrocollis Upslanted palpebral fissure Scarring Pectus carinatum Anal atresia Single transverse palmar crease Laryngeal dystonia Broad nasal tip Ectodermal dysplasia Short palpebral fissure Low anterior hairline Conjunctivitis Dermal atrophy Abnormality of the sternum Oromandibular dystonia Mild microcephaly Absent eyelashes Myoclonus Cleft palate Atrial septal defect Malar flattening Arachnodactyly Cupped ear Cognitive impairment Tremor Abnormality of the eye Generalized dystonia Abnormality of eye movement Astigmatism Clumsiness Torticollis Dysphonia Toe walking Limb dystonia Aplasia cutis congenita Periorbital fullness Clinodactyly Pachygyria Nystagmus Agenesis of corpus callosum Micropenis Muscular hypotonia of the trunk Postnatal growth retardation Intellectual disability, profound Heterotopia Spontaneous abortion Abdominal obesity Lissencephaly Abnormality of neuronal migration Microphallus Agyria Type I lissencephaly Subependymal nodules Hearing impairment Primary testicular failure Decreased serum testosterone level Distichiasis Short foot Multiple rows of eyelashes Absent lower eyelashes Aged leonine appearance Obesity Delayed skeletal maturation Hypogonadism Small hand Decreased testicular size Increased circulating gonadotropin level Specific learning disability Gynecomastia Hypergonadotropic hypogonadism Premature ovarian insufficiency High pitched voice Truncal obesity Sparse body hair Small earlobe


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