Visual impairment, and Delayed skeletal maturation

Diseases related with Visual impairment and Delayed skeletal maturation

In the following list you will find some of the most common rare diseases related to Visual impairment and Delayed skeletal maturation that can help you solving undiagnosed cases.


Top matches:

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33

Low match SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


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

Low match COFFIN-SIRIS SYNDROME 4; CSS4


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 4; CSS4 Is also known as mrd16|mental retardation, autosomal dominant 16

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 4; CSS4

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Other less relevant matches:

Low match LOWRY-WOOD SYNDROME


Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.

LOWRY-WOOD SYNDROME Is also known as lowry-wood syndrome|lws|epiphyseal dysplasia-microcephaly-nystagmus syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LOWRY-WOOD SYNDROME

Low match COFFIN-SIRIS SYNDROME 3; CSS3


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

COFFIN-SIRIS SYNDROME 3; CSS3 Is also known as mrd15|mental retardation, autosomal dominant 15

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 3; CSS3

Low match KALLMANN SYNDROME


Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Low match COFFIN-SIRIS SYNDROME 2; CSS2


Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Low match AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA


Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.

AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as axial smd|smd, axial

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AXIAL SPONDYLOMETAPHYSEAL DYSPLASIA

Low match 5Q35 MICRODUPLICATION SYNDROME


The newly described 5q35 microduplication syndrome is associated with microcephaly, short stature, developmental delay and delayed bone maturation.

5Q35 MICRODUPLICATION SYNDROME Is also known as dup(5)(q35)|trisomy 5q35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about 5Q35 MICRODUPLICATION SYNDROME

Low match SIALIDOSIS TYPE 1


Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

Top 5 symptoms//phenotypes associated to Visual impairment and Delayed skeletal maturation

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Visual impairment and Delayed skeletal maturation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Anteverted nares Abnormality of cardiovascular system morphology Coarse facial features Nystagmus Generalized hypotonia Thick eyebrow Muscular hypotonia Feeding difficulties Sparse scalp hair Aplasia/Hypoplasia of the distal phalanges of the hand Abnormal corpus callosum morphology Long eyelashes Wide nose Hypertrichosis Macroglossia Progressive visual loss Depressed nasal bridge Wide mouth Global developmental delay Brachydactyly Growth delay Skeletal dysplasia

Rare Symptoms - Less than 30% cases


Rod-cone dystrophy Hearing impairment Kyphosis Frontal bossing Thick lower lip vermilion Intrauterine growth retardation Delayed puberty Gait disturbance Ptosis Hirsutism Platyspondyly Muscle weakness Sensorineural hearing impairment Ataxia Dandy-Walker malformation Thick vermilion border Sparse hair Epiphyseal dysplasia Coxa vara Astigmatism Tremor Intellectual disability, mild Blindness Optic atrophy Myopia Reduced visual acuity Proptosis Hypertelorism Postnatal growth retardation Short nose Visual loss Pneumonia Photophobia Telecanthus Nyctalopia Nonprogressive visual loss Retinal degeneration Intellectual disability, severe Pigmentary retinopathy Limb undergrowth Abnormality of the metaphysis Bowing of the long bones Rhizomelia Short ribs Recurrent pneumonia Retinal dystrophy Downslanted palpebral fissures Respiratory distress Abnormality of the pinna Abnormal facial shape Low-set ears Delayed speech and language development Motor delay Recurrent infections Constipation Agenesis of corpus callosum High forehead Poor speech Metaphyseal irregularity Highly arched eyebrow Small nail Hyperactivity Low anterior hairline Shortening of all distal phalanges of the fingers Prominent interphalangeal joints Absent fifth toenail Absent fifth fingernail Neonatal respiratory distress Thoracic hypoplasia Mild short stature Abnormality of movement Hernia Myoclonus Hyperkeratosis EEG abnormality Retinopathy Pectus carinatum Corneal opacity Neurological speech impairment Abnormal form of the vertebral bodies Skeletal muscle atrophy Aminoaciduria Slurred speech Decreased nerve conduction velocity Short thorax Dysostosis multiplex Vascular skin abnormality Cherry red spot of the macula Increased urinary O-linked sialopeptides Splenomegaly Wide nasal bridge Short femoral neck Anterior rib cupping Erectile abnormalities Metaphyseal dysplasia Bronchitis Bell-shaped thorax Thoracic kyphosis Ovoid vertebral bodies Thoracic dysplasia Spondylometaphyseal dysplasia Prominent sternum Cataract Narrow greater sacrosciatic notches Aplasia/hypoplasia of the extremities Cupped ribs Proximal femoral metaphyseal irregularity Enchondroma Irregular iliac crest Behavioral abnormality Specific learning disability Hypothalamic gonadotropin-releasing hormone deficiency Abnormality of female internal genitalia Dyspareunia Aplasia/Hypoplasia of the corpus callosum Syndactyly Genu valgum Long philtrum Hip dysplasia Abnormality of epiphysis morphology Abnormality of retinal pigmentation Joint dislocation Short neck Small for gestational age Elbow dislocation Limited elbow extension Dislocated radial head Congenital nystagmus Patellar dislocation Multiple epiphyseal dysplasia Irregular epiphyses Small epiphyses Hip dislocation Joint stiffness Shallow acetabular fossae Narrow forehead Blue cone monochromacy Prominent glabella Achromatopsia Dyschromatopsia Cutis laxa Sandal gap Fine hair Single transverse palmar crease Arthralgia Small hand Thin vermilion border Long face Micromelia Facial asymmetry Hypermetropia Thick nasal alae Brachycephaly Tapetoretinal degeneration Multiple joint dislocation Bimanual synkinesia Reduced bone mineral density Recurrent fractures Renal agenesis Decreased testicular size Hypoplasia of penis Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Anosmia Paraplegia Reduced number of teeth Abnormality of the voice Abnormality of color vision Decreased fertility Hyposmia Anterior hypopituitarism Hyposegmentation of neutrophil nuclei Breast hypoplasia Ichthyosis Attention deficit hyperactivity disorder Squared iliac bones Cleft palate Abnormality of nail color High palate Abnormal heart morphology Cerebellar hypoplasia Delayed eruption of permanent teeth Lacrimal duct aplasia Epicanthus Strabismus Cryptorchidism Pes planus Chorioretinal degeneration Dysarthria Amblyopia Decreased body weight Obesity Pes cavus Micropenis Memory impairment Urinary excretion of sialylated oligosaccharides



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