Growth delay, and Hypermetropia

Diseases related with Growth delay and Hypermetropia

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

Top matches:

Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.

NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER Is also known as microcephaly and chromosomal instability without immunodeficiency|nbsld|microcephaly and spontaneous chromosome instability without immunodeficiency|nbs-like disorder|rad50 deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER

Other less relevant matches:

Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

AUTOSOMAL DOMINANT BRACHYOLMIA Is also known as brachyrachia|brachyolmia type 3|brachyolmia, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Short neck
  • Kyphosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT BRACHYOLMIA

X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males.

X-LINKED RECESSIVE OCULAR ALBINISM Is also known as ocular albinism type 1|ocular albinism, nettleship-falls type|nettleship-falls type ocular albinism|oa1|xloa

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about X-LINKED RECESSIVE OCULAR ALBINISM

Methylmalonic acidemia and homocysteinemia, cblX type, is an X-linked recessive metabolic disorder characterized by severely delayed psychomotor development apparent in infancy. It is associated with failure to thrive, mental retardation, and intractable epilepsy. Additional features may include microcephaly and choreoathetosis (summary by Yu et al., 2013).

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX Is also known as combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblx|mrx3|mental retardation, x-linked 3|methylmalonic aciduria with homocystinuria, type cblx

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLX

Aland Island Eye Disease (AIED) is an X-linked recessive retinal disease characterized by fundus hypopigmentation, decrased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia.

ÅLAND ISLANDS EYE DISEASE Is also known as aied|forsius-eriksson type ocular albinism|forsius-eriksson syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Myopia
  • Blindness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ÅLAND ISLANDS EYE DISEASE

NEDDFL is a neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability, poor growth with small head size, dysmorphic facial features, and mild abnormalities of the hands and feet (summary by Stankiewicz et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL

OPA11 is an autosomal recessive disorder characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy on brain imaging. Laboratory studies are consistent with mitochondrial dysfunction (summary by Hartmann et al., 2016).For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY 11; OPA11

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

Top 5 symptoms//phenotypes associated to Growth delay and Hypermetropia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Myopia Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Blindness Generalized hypotonia Hypopigmentation of the skin Nyctalopia

Rare Symptoms - Less than 30% cases

Seizures Brachydactyly Short neck Giant melanosomes in melanocytes Clinodactyly Hypopigmentation of the fundus Epicanthus Hypoplasia of the fovea Ocular albinism Ataxia Optic atrophy Congenital nystagmus Small hand Sandal gap Albinism Nystagmus Visual impairment Astigmatism Abnormal facial shape Amblyopia Falls Thin vermilion border Cataract Brachycephaly Dyschromatopsia Photophobia Achromatopsia High myopia Reduced visual acuity Hypertelorism Abnormal retinal morphology Severe vision loss Broad nasal tip Congenital stationary night blindness Tapetoretinal degeneration Prominent nose Abnormality of the cerebral white matter Adrenal hypoplasia Pes planus Thin upper lip vermilion Congenital adrenal hypoplasia Narrow mouth Upslanted palpebral fissure Protanopia Axial myopia Incomplete congenital stationary night blindness Abnormality of the skeletal system Difficulty adjusting from light to dark Delayed speech and language development Micrognathia Hearing impairment Underdeveloped nasal alae Thick eyebrow Syndactyly Delayed skeletal maturation Proptosis Postnatal growth retardation Facial asymmetry Micromelia Long face Single transverse palmar crease Muscular hypotonia Progressive visual loss Narrow forehead Fine hair Cutis laxa Prominent glabella Blue cone monochromacy Hyposegmentation of neutrophil nuclei Long philtrum Abnormality of the basal ganglia Short palpebral fissure Absent speech Postnatal microcephaly Overlapping toe Broad hallux Slender finger Abnormal electroretinogram Macrocephaly Midface retrusion Cerebellar hypoplasia Facial diplegia Hyperactivity Macrotia Dysmetria Brain atrophy Leukoencephalopathy Hyperkinesis Abnormality of mitochondrial metabolism Abnormality of color vision Anxiety Muscular dystrophy Mild myopia Spondyloepiphyseal dysplasia Radial deviation of finger Abnormality of the metaphysis Limb undergrowth Platyspondyly Kyphoscoliosis Severe short stature Kyphosis Scoliosis Chromosomal breakage induced by ionizing radiation Telangiectasia Immunodeficiency Spasticity Scleral staphyloma Nuclear cataract Short femoral neck Autistic behavior Cleft palate Cryptorchidism Feeding difficulties Atrial septal defect Abnormality of the dentition Patent ductus arteriosus Coarctation of aorta Central scotoma Obesity Rod-cone dystrophy Retinal degeneration Retinal dystrophy Truncal obesity High hypermetropia Short thorax Spinal cord compression Abnormality of the eye Increased body weight Acidosis Aggressive behavior Tapered finger Chorea Hypsarrhythmia Choreoathetosis Short chin High palate Athetosis Methylmalonic aciduria Homocystinuria Methylmalonic acidemia Abnormality of metabolism/homeostasis Hypogonadism Behavioral abnormality Failure to thrive Barrel-shaped chest Blurred vision Increased vertebral height Proximal femoral metaphyseal irregularity Childhood-onset short-trunk short stature Ichthyosis Abnormality of skin pigmentation Neoplasm of the skin Freckling Depigmented fundus Iris hypopigmentation Pendular nystagmus Abnormal pupil morphology Macular hypoplasia Abnormal macular morphology Nystagmus-induced head nodding Nonprogressive visual loss


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