Brachydactyly, and Progressive neurologic deterioration

Diseases related with Brachydactyly and Progressive neurologic deterioration

In the following list you will find some of the most common rare diseases related to Brachydactyly and Progressive neurologic deterioration that can help you solving undiagnosed cases.


Top matches:

Low match BARDET-BIEDL SYNDROME 4; BBS4


BBS4 is a rare multisystemic disorder characterized primarily by retinal dystrophy, obesity, polydactyly, and renal dysfunction that accounts for less than 3% of BBS (Katsanis et al., 2002). Anosmia has been described in patients with BBS4 (Iannaccone et al., 2005), as well as polydactyly confined to the hands (Carmi et al., 1995).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly
  • Blindness


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 4; BBS4

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match BARDET-BIEDL SYNDROME 18; BBS18


BBS18 is an autosomal recessive ciliopathy described in a single patient and characterized by retinitis pigmentosa, obesity, kidney failure, and cognitive disability (Scheidecker et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 18; BBS18

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Other less relevant matches:

Low match BARDET-BIEDL SYNDROME 5; BBS5


BBS5 is a ciliopathy associated with severe and early-onset retinal dystrophy, postaxial polydactyly, obesity, renal dysfunction, hypogonadism, and learning difficulties (summary by Scheidecker et al., 2015). Patients described by Young et al. (1999) and Moore et al. (2005) with mutations in the BBS5 gene did not have polydactyly. The contribution of BBS5 mutations to all cases of BBS has been estimated at 2% (Li et al., 2004) and 0.40% (Zaghloul and Katsanis, 2009).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Visual impairment
  • Brachydactyly
  • Syndactyly
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 5; BBS5

Low match ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE


Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

Related symptoms:

  • Scoliosis
  • Cognitive impairment
  • Brachydactyly
  • Joint stiffness
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

Low match BARDET-BIEDL SYNDROME 17; BBS17


BBS17 is an autosomal recessive ciliopathy characterized by retinitis pigmentosa, cognitive impairment, obesity, renal dysfunction, and hypogenitalism. Polydactyly, most often postaxial, is also a primary feature of BBS; in BBS17 mesoaxial polydactyly, with fused or Y-shaped metacarpals, is a distinct manifestation (Deffert et al., 2007; Schaefer et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Cognitive impairment
  • Brachydactyly
  • Renal insufficiency
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 17; BBS17

Low match TEMTAMY SYNDROME


Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

Low match PSEUDOPSEUDOHYPOPARATHYROIDISM


Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).

PSEUDOPSEUDOHYPOPARATHYROIDISM Is also known as aho-pphp syndrome|albright hereditary osteodystrophy without multiple hormone resistance|albright hereditary osteodystrophy-pphp syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PSEUDOPSEUDOHYPOPARATHYROIDISM

Low match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Low match ACROMESOMELIC DYSPLASIA, GREBE TYPE


Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, GREBE TYPE Is also known as fumaric aciduria|chondrodysplasia, grebe type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, GREBE TYPE

Top 5 symptoms//phenotypes associated to Brachydactyly and Progressive neurologic deterioration

Symptoms // Phenotype % cases
Cognitive impairment Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Obesity Common - Between 50% and 80% cases
Rod-cone dystrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Progressive neurologic deterioration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment Retinal dystrophy Short stature Cataract Renal insufficiency Abnormal facial shape Depressed nasal bridge Hypogonadism Optic atrophy Generalized hypotonia Abnormality of the skeletal system Seizures External genital hypoplasia Polydactyly Hypertelorism

Rare Symptoms - Less than 30% cases


Hip dislocation Short metacarpal Short toe Neurological speech impairment Joint stiffness Postaxial polydactyly Stage 5 chronic kidney disease Relative macrocephaly Hearing impairment Agenesis of corpus callosum Nystagmus Frontal bossing Hyperbilirubinemia Coarse facial features Ventricular septal defect Ventriculomegaly Cryptorchidism Round face Short foot Patent ductus arteriosus Macrocephaly Tarsal synostosis Intellectual disability, profound Renal cyst Encephalopathy Mental deterioration Syndactyly High palate Retinal degeneration Pain Anosmia Aggressive behavior Aplasia/Hypoplasia involving the metacarpal bones Delayed eruption of teeth Full cheeks Cerebral calcification Hypoplasia of dental enamel Infantile encephalopathy Short metatarsal Osteoporosis Impulsivity Psychomotor deterioration Short 4th metacarpal Enterocolitis Pseudohypoparathyroidism Ectopic calcification Short nose Organic aciduria Brachycephaly Short neck Choroid plexus cyst Congenital nystagmus Short chin Aortic regurgitation Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Genu varum Aplasia of the middle phalanges of the toes Aortic aneurysm Chorioretinal coloboma Unilateral renal agenesis Bowing of the legs Neurogenic bladder Proptosis Hypoplasia of teeth Profound global developmental delay Colpocephaly Short upper lip Lens luxation Lop ear Scleral staphyloma Cutaneous leiomyoma Short 2nd toe Mitochondrial encephalopathy Posterior staphyloma Pneumonia Lissencephaly Short tibia Lactic acidosis Cerebral atrophy Acidosis Polyhydramnios Hypoplasia of the brainstem Sarcoma Optic nerve hypoplasia Disproportionate short-limb short stature Skeletal dysplasia Pallor Micromelia Hepatic failure Reduced subcutaneous adipose tissue Polymicrogyria Metabolic acidosis Abdominal distention Aciduria Postaxial hand polydactyly Generalized-onset seizure Status epilepticus Cholestasis Bowing of the long bones Aminoaciduria Abnormality of the coagulation cascade Aplasia/Hypoplasia of the thumb Hyperammonemia Horseshoe kidney Fibular hypoplasia Gastroesophageal reflux Abnormal cardiac septum morphology Thick eyebrow Downturned corners of mouth Vesicoureteral reflux Abnormal lung morphology Long eyelashes Abnormal vertebral morphology Aspiration Laryngomalacia Respiratory insufficiency Aspiration pneumonia Tracheal stenosis Chronic lung disease Thick hair Recurrent aspiration pneumonia Microcephaly Neoplasm Polycythemia Failure to thrive Muscular hypotonia Anteverted nares Synostosis of carpal bones Gait ataxia Dental crowding Exercise-induced myoglobinuria Aphasia Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Macular dystrophy Hemiplegia Severe vision loss Scoliosis Short thumb Bilateral single transverse palmar creases Abnormality of pelvic girdle bone morphology Elbow dislocation Patellar dislocation Abnormality of the ankles Severe short-limb dwarfism Acromesomelia Emotional lability Spastic tetraparesis Abnormally shaped carpal bones Splenomegaly Blindness Abnormality of the dentition Clinodactyly Reduced visual acuity Nyctalopia Ataxia Anemia Delayed speech and language development Fatigue Myopathy Visual loss Purpura Jaundice Hepatosplenomegaly Myalgia Paralysis Muscular dystrophy Hemolytic anemia Muscle cramps Migraine Tetraparesis Exercise intolerance Cuboidal metacarpal Micropenis Thick lower lip vermilion Facial asymmetry Abnormal heart morphology Clinodactyly of the 5th finger Autism Pes planus Hydronephrosis Telecanthus Intellectual disability, moderate Coloboma Corneal opacity Dolichocephaly Joint hyperflexibility Dilatation Long face Iris coloboma Highly arched eyebrow Microcornea Prominent nose Esotropia Renal agenesis Convex nasal ridge Progressive visual loss Bilateral sensorineural hearing impairment Absent speech Microphthalmia Situs inversus totalis Micrognathia Cone/cone-rod dystrophy Polydipsia Polyuria Foot polydactyly Postaxial foot polydactyly Undetectable electroretinogram Hyposmia Bilateral postaxial polydactyly Mesoaxial polydactyly Y-shaped metacarpals Sensorineural hearing impairment Long philtrum Spasticity Ptosis Low-set ears Myopia Downslanted palpebral fissures Talipes equinovarus Hypoplasia of the corpus callosum Atrial septal defect Intellectual disability, severe Congestive heart failure Intellectual disability, mild Open operculum



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