Growth delay, and Retinal detachment

Diseases related with Growth delay and Retinal detachment

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

Top matches:

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE V; STL5

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Myopia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about JOINT LAXITY, SHORT STATURE, AND MYOPIA; JLSM

Related symptoms:

  • Micrognathia
  • Hepatic steatosis
  • Retinal detachment
  • Hypertriglyceridemia
  • Congenital blindness


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM-INSULIN RESISTANCE SYNDROME

Other less relevant matches:

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE IV; STL4

Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.

VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET MESH MENDELIAN

More info about VOGT-KOYANAGI-HARADA DISEASE

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.

COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME Is also known as microphthalmia or coloboma with or without rhizomelic skeletal dysplasia|microphthalmia, syndromic 14|microphthalmia-coloboma-rhizomelic skeletal dysplasia|mcops14

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Strabismus
  • Abnormal facial shape
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about COLOBOMATOUS MICROPHTHALMIA-RHIZOMELIC DYSPLASIA SYNDROME

Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

Top 5 symptoms//phenotypes associated to Growth delay and Retinal detachment

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases
Glaucoma Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cataract Vitreoretinopathy Scoliosis Cleft palate Flat face Micrognathia High myopia

Rare Symptoms - Less than 30% cases

Narrow chest Limitation of joint mobility Abnormality of epiphysis morphology Hypertriglyceridemia Epiphyseal dysplasia Platyspondyly Astigmatism Genu valgum Skeletal dysplasia Nystagmus Insulin-resistant diabetes mellitus Abnormal facial shape Severe short stature Strabismus Hepatic steatosis Coloboma Flexion contracture Hypertension Chorioretinal coloboma Talipes equinovarus Kyphosis Glucose intolerance Cone-shaped epiphysis Deep philtrum Precocious puberty Aortic aneurysm Anophthalmia Metaphyseal widening Microretrognathia Acanthosis nigricans Congestive heart failure Ventricular hypertrophy Diabetes mellitus Sclerocornea Ectopia pupillae Periorbital fullness Monocular strabismus Microcephaly Dilatation Glycosuria Elevated serum aspartate aminotransferase Slender long bone Nephrolithiasis Stiff skin Lack of skin elasticity Abnormality of lipid metabolism Impaired pain sensation Abnormality of the musculature Scleroderma Aplasia/Hypoplasia of the skin Lipoatrophy Multiple lipomas Decreased muscle mass Mild short stature Ectopia lentis Lipodystrophy Thickened skin Skin tags Subcutaneous nodule Hypertrichosis Type II diabetes mellitus Paralysis Midface retrusion Rhizomelia Peripheral neuropathy Muscle weakness Elevated serum alanine aminotransferase Abdominal aortic aneurysm Acute pancreatitis Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Knee flexion contracture Intellectual disability Long eyelashes Primary gonadal insufficiency Sparse scalp hair Visual impairment Cognitive impairment Degenerative vitreoretinopathy Irregular capital femoral epiphysis Rhegmatogenous retinal detachment Flat capital femoral epiphysis Severe sensorineural hearing impairment Malar prominence Severe short-limb dwarfism Congenital blindness Premature graying of hair Cervical kyphosis Multiple joint dislocation Bilateral talipes equinovarus Progressive hearing impairment Joint dislocation Iris coloboma Talipes Pectus carinatum Joint laxity Kyphoscoliosis Proptosis Hypopigmented skin patches Abnormal eyelash morphology Microcornea Amblyopia Intellectual disability, moderate Pes planus Prominent forehead Pes cavus Hypospadias Microphthalmia Syndactyly Macrocephaly Epicanthus Cryptorchidism Irregular vertebral endplates Joint hyperflexibility Vitiligo Malar flattening Short thorax Coxa vara Osteoarthritis Micromelia Broad forehead Hyperlordosis Short neck Hypertelorism Poliosis Abnormal eyebrow morphology Entrapment neuropathy


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