Hearing impairment, and Severe short stature

Diseases related with Hearing impairment and Severe short stature

In the following list you will find some of the most common rare diseases related to Hearing impairment and Severe short stature that can help you solving undiagnosed cases.

Top matches:

Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.

SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME Is also known as deafness, congenital, with split hands and feet

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Frontal bossing


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPLIT HAND-SPLIT FOOT-DEAFNESS SYNDROME

Progressive familial intrahepatic cholestasis is a heterogeneous group of autosomal recessive liver disorders characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood (Alonso et al., 1994; Whitington et al., 1994; Klomp et al., 2004). Genetic Heterogeneity of Progressive Familial Intrahepatic CholestasisPFIC is a genetically heterogeneous disorder caused by defects in the transport of bile acids. See also PFIC2 (OMIM ), caused by mutation in a liver-specific ATP-binding cassette transporter gene (ABCB11 ) on chromosome 2q24; PFIC3 (OMIM ), caused by mutation in the class III multidrug resistance P-glycoprotein gene (ABCB4 ) on chromosome 7q21; PFIC4 (OMIM ), caused by mutation in the TJP2 gene (OMIM ) on chromosome 9q12; and PFIC5 (OMIM ), caused by mutation in the NR1H4 gene (OMIM ) on chromosome 12q.PFIC1 and PFIC2 are associated with mildly elevated or normal serum levels of gamma-glutamyltransferase (GGT; see {612346}), whereas PFIC3 is associated with high serum GGT levels and liver histology that shows portal inflammation and ductular proliferation in an early stage ({27,26:Maggiore et al., 1987, 1991}). PFIC4 is associated with normal or mildly increased GGT levels (Sambrotta et al., 2014). PFIC5 is associated with low to normal GGT levels.There are also several phenotypically similar liver disorders that result from congenital defects in bile acid synthesis. See CBAS1 (OMIM ).

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1 Is also known as byler disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

Leri-Weill dyschondrosteosis (LWD) is a dominantly inherited skeletal dysplasia characterized by short stature, mesomelia, and Madelung wrist deformity. Although the disorder occurs in both sexes, it is usually more severe in females, perhaps due to sex difference in estrogen levels. However, pubertal development and fertility are generally normal in both sexes with the disorder (summary by Ross et al., 2005). The Madelung wrist deformity includes deformity of the distal radius and ulna and proximal carpal bones (Langer, 1965).See also Langer mesomelic dysplasia (LMD ), a more severe phenotype that results from homozygous defect in the SHOX or SHOXY genes.

LERI-WEILL DYSCHONDROSTEOSIS; LWD Is also known as dyschondrosteosis|dco

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • High palate
  • Severe short stature


SOURCES: OMIM MENDELIAN

More info about LERI-WEILL DYSCHONDROSTEOSIS; LWD

Other less relevant matches:

Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)For a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis (McPherson and Clemens, 1997). Genetic Heterogeneity of Bruck SyndromeBruck syndrome-2 (OMIM ) is caused by homozygous mutation in the PLOD2 gene (OMIM ) on chromosome 3q24. Van der Slot et al. (2003) stated that they were unaware of any phenotypic differences between the 2 forms of Bruck syndrome.

BRUCK SYNDROME 1; BRKS1 Is also known as arthrogryposis-like disorder|kuskokwim disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Flexion contracture
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about BRUCK SYNDROME 1; BRKS1

For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Medium match STIFF SKIN SYNDROME

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

BILATERAL GENERALIZED POLYMICROGYRIA Is also known as pmgys|polymicrogyria with seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL GENERALIZED POLYMICROGYRIA

A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DE SANCTIS-CACCHIONE SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Severe short stature

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Flexion contracture Growth delay Failure to thrive Ataxia Spasticity

Rare Symptoms - Less than 30% cases

Hyperlordosis Optic atrophy Dysarthria Motor delay Mild short stature Kyphosis Dermal atrophy Cutaneous photosensitivity Jaundice Areflexia Seizures Multiple joint contractures Intellectual disability, severe Skeletal dysplasia Abnormal pyramidal sign Defective DNA repair after ultraviolet radiation damage Thoracic kyphosis Hypopituitarism Pituitary hypothyroidism Hyperextensible skin Panhypopituitarism Olivopontocerebellar atrophy Abnormal anterior horn cell morphology Adrenocorticotropic hormone deficiency Gonadotropin deficiency Anterior pituitary hypoplasia Prolactin deficiency Small nail Thoracolumbar kyphoscoliosis Entropion Pituitary dwarfism Lumbar kyphosis Hypothalamic luteinizing hormone-releasing hormone deficiency Strabismus Increased body weight Short neck Cyanosis Basal ganglia calcification Cataract Hyperreflexia Ventriculomegaly Microphthalmia Hypogonadism Retinopathy Retinal degeneration Pigmentary retinopathy Abnormality of the cardiovascular system Decreased nerve conduction velocity Basal cell carcinoma Freckling Progeroid facial appearance Growth hormone deficiency Squamous cell carcinoma of the skin Cutaneous melanoma Abnormal CNS myelination Increased cellular sensitivity to UV light Generalized hypotonia Delayed speech and language development Abnormality of the skeletal system Hypertension Myopathy Micropenis Carious teeth Joint hypermobility Muscle weakness Paralysis Peripheral neuropathy Abnormality of the spinal cord Polymicrogyria Sloping forehead Tetraparesis Pachygyria Heterotopia Spastic tetraparesis Lissencephaly Unilateral renal agenesis Ectopic kidney Severe failure to thrive Cardiorespiratory arrest Duodenal atresia Abnormal corpus callosum morphology Gray matter heterotopias Craniosynostosis Short corpus callosum Hyporeflexia Photophobia Abnormality of the nervous system Mental deterioration Leukemia Progressive neurologic deterioration Choreoathetosis Telangiectasia Conjunctivitis Melanoma Ectropion Keratitis Acute lymphoblastic leukemia Poor speech Intellectual disability, moderate Midface retrusion Lipoatrophy Glaucoma Poikiloderma Narrow chest Retinal detachment Limitation of joint mobility Vertebral wedging Hypertrichosis Subcutaneous nodule Thickened skin Nephrolithiasis Lipodystrophy Ectopia lentis Decreased muscle mass Multiple lipomas Aplasia/Hypoplasia of the skin EEG abnormality Scleroderma Abnormality of the musculature Impaired pain sensation Abnormality of lipid metabolism Lack of skin elasticity Stiff skin Entrapment neuropathy Cryptorchidism Wide nasal bridge Intrauterine growth retardation Absent speech Hypospadias Cerebellar hypoplasia Agenesis of corpus callosum Type II diabetes mellitus Increased susceptibility to fractures Protrusio acetabuli Arthralgia Steatorrhea Hepatocellular carcinoma Thrombocytosis Intrahepatic cholestasis Conjugated hyperbilirubinemia Fat malabsorption Intermittent jaundice Vitamin E deficiency Civatte bodies Increased serum bile acid concentration Intrahepatic cholestasis with episodic jaundice High palate Conductive hearing impairment Congenital sensorineural hearing impairment High, narrow palate Limb undergrowth Tall stature Rhizomelia Short toe Coxa valga Disproportionate short-limb short stature Hypoplasia of the radius Skeletal muscle hypertrophy Hypoplasia of the ulna Mesomelia Tibial bowing Gonadal dysgenesis Malnutrition Pancreatitis Upper limb undergrowth Diarrhea Frontal bossing Clinodactyly Synophrys Tapered finger Split hand Low anterior hairline Abnormality of the nail Split foot Moderate hearing impairment Hitchhiker thumb Aplasia of the 2nd finger Hepatomegaly Splenomegaly Hyperbilirubinemia Pes cavus Rod-cone dystrophy Hepatosplenomegaly Carcinoma Abnormality of the liver Pruritus Ophthalmoplegia Cirrhosis Hepatic failure Sepsis Neuronal loss in central nervous system Cholestasis Hepatic fibrosis Fibular hypoplasia Short tibia Dentinogenesis imperfecta Blue sclerae Leukodystrophy Athetosis Talipes equinovarus Osteoporosis Kyphoscoliosis Osteopenia Joint laxity Pectus carinatum Platyspondyly Arthrogryposis multiplex congenita Talipes Recurrent fractures Abnormal lung morphology Intention tremor Elbow flexion contracture Knee flexion contracture Wormian bones Coxa vara Torticollis Pterygium Congenital contracture Bilateral talipes equinovarus Limited elbow extension Restrictive ventilatory defect Hip contracture Ankle contracture Abnormality of the lower limb Amblyopia Progressive visual loss Radial bowing Global developmental delay Short 4th metacarpal Abnormality of the humerus Limited elbow movement Madelung deformity Abnormality of the carpal bones Multiple exostoses Mesomelic short stature Long fibula Limited wrist movement Shortening of the tibia Abnormal metatarsal morphology Dorsal subluxation of ulna Increased carrying angle Nystagmus Progressive cerebellar ataxia Cognitive impairment Feeding difficulties Tremor Dysphagia Hypoplasia of the corpus callosum Dystonia Cerebral atrophy Visual loss Pneumonia Developmental regression Hypermetropia Inability to walk Abnormal cerebellum morphology Gonadal hypoplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Hemolytic anemia, related diseases and genetic alterations Myopathy and Retinopathy, related diseases and genetic alterations Cognitive impairment and Chronic myelogenous leukemia, related diseases and genetic alterations Nystagmus and Small nail, related diseases and genetic alterations Growth delay and Peripheral axonal neuropathy, related diseases and genetic alterations