Brachydactyly, and Proteinuria

Diseases related with Brachydactyly and Proteinuria

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


Top matches:

Low match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5|asphyxiating thoracic dystrophy 5

Related symptoms:

  • Growth delay
  • Cataract
  • Hypertension
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5

Low match CRANIOECTODERMAL DYSPLASIA 2; CED2


Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

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Other less relevant matches:

Low match OROFACIODIGITAL SYNDROME I; OFD1


Orofaciodigital syndrome type I (OFD1) is characterized by malformations of the face, oral cavity, and digits and is transmitted as an X-linked dominant condition with lethality in males. Thickened alveolar ridges and abnormal dentition, including absent lateral incisors, are additional characteristics of OFD1. The central nervous system may also be involved in as many as 40% of cases. Although these clinical features overlap those reported in other forms of orofaciodigital syndrome, OFD1 can be easily distinguished from among these by its X-linked dominant inheritance pattern and by polycystic kidney disease, which seems to be specific to type I (summary by Ferrante et al., 2001).Since the CXORF5 gene localizes to the centrosome and basal body of primary cilia, OFD1 is considered to be a ciliopathy (Chetty-John et al., 2010).

OROFACIODIGITAL SYNDROME I; OFD1 Is also known as oral-facial-digital syndrome, type i|papillon-leage and psaume syndrome|ofds i

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME I; OFD1

Low match OROFACIODIGITAL SYNDROME TYPE 1


Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.

OROFACIODIGITAL SYNDROME TYPE 1 Is also known as ofd1|papillon-lÉage-psaume syndrome|ofdsi|oral-facial-digital syndrome type 1|ofdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 1

Low match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

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

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Top 5 symptoms//phenotypes associated to Brachydactyly and Proteinuria

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Telecanthus Common - Between 50% and 80% cases
Abnormality of the dentition Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Proteinuria. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Polydactyly Epicanthus Hearing impairment Intellectual disability Cleft palate Hypertension High palate Sparse hair Wide nasal bridge Frontal bossing Low-set ears Abnormality of the skeletal system Renal insufficiency Syndactyly Microcephaly Stage 5 chronic kidney disease Mandibular prognathia Seizures Growth delay Retrognathia Downslanted palpebral fissures Clinodactyly Abnormality of the pinna Milia Global developmental delay Intrauterine growth retardation Depressed nasal bridge Short ribs Cataract Coarse hair Anteverted nares Short neck Abnormal heart morphology Scoliosis Dry skin Brachycephaly Coarse facial features Strabismus Thin upper lip vermilion Postaxial polydactyly Myopia Alopecia Carious teeth Oral cleft Clinodactyly of the 5th finger Inguinal hernia Hydrocephalus Cleft lip

Rare Symptoms - Less than 30% cases


Hepatic fibrosis Neoplasm Cryptorchidism Kyphoscoliosis Severe short stature Astigmatism Coloboma Widely spaced teeth Proptosis Nephronophthisis Postnatal growth retardation Sparse eyebrow Glaucoma Abdominal pain Macrocephaly Tongue nodules Hirsutism Hypertrichosis Facial asymmetry Underdeveloped nasal alae Abnormality of the kidney Agenesis of corpus callosum Choanal atresia Dilatation Tremor Dysarthria Ataxia Cleft upper lip Iris coloboma Agenesis of permanent teeth Vomiting Median cleft lip Peripheral neuropathy Microcornea Abnormality of the pancreas Ovarian cyst Single transverse palmar crease Lobulated tongue Conductive hearing impairment Craniosynostosis Hypoglycemia Female pseudohermaphroditism Relative macrocephaly Ventricular septal defect Postaxial hand polydactyly Rhizomelia Renal hypoplasia Limb undergrowth Full cheeks Prominent forehead Narrow chest Respiratory tract infection Respiratory distress Atrial septal defect Abnormality of the abdominal wall Feeding difficulties Abnormality of the upper urinary tract Advanced eruption of teeth Long penis Thick nail Growth hormone excess Prematurely aged appearance Abnormality of the thyroid gland Precocious puberty Polycystic ovaries Acanthosis nigricans Generalized hirsutism Intellectual disability, severe Diabetes mellitus Motor delay Glomerulonephritis Ptosis Generalized hypotonia Microdontia Renal cyst Smooth philtrum Gastroesophageal reflux Blepharophimosis Narrow mouth Pancreatic cysts Elevated hepatic transaminase Supernumerary ribs Deviation of finger Rod-cone dystrophy Upslanted palpebral fissure Failure to thrive Pectus excavatum Hernia Nystagmus Abnormal facial shape Prominent nasal bridge Toe syndactyly Downturned corners of mouth Thin vermilion border Thick eyebrow Vertigo Micromelia Hyperhidrosis Hyperactivity Hip dislocation Pulmonic stenosis Autism Pulmonary hypoplasia Aggressive behavior Hypertrophic cardiomyopathy Small for gestational age Pallor Autistic behavior Synophrys Camptodactyly Orbital cyst Pneumonia Medulloblastoma Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Ectopic calcification Astrocytoma Palmar pits Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Short distal phalanx of the thumb Small hand Delayed skeletal maturation Anemia Hypospadias Thrombocytopenia Headache Long philtrum Behavioral abnormality Hypertonia Cardiomyopathy Talipes equinovarus Optic atrophy Fever Delayed speech and language development Sensorineural hearing impairment Calcification of falx cerebri Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma High, narrow palate Hypoplastic nipples Highly arched eyebrow Projectile vomiting Obesity Visual impairment Cognitive impairment Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Left-to-right shunt Flexion contracture Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Short sternum Retinal dystrophy Edema Panhypopituitarism Abnormal intestine morphology Peripheral edema Stiff neck Mucopolysacchariduria Protein-losing enteropathy Thoracolumbar scoliosis Thoracic kyphosis Scleroderma Malnutrition Rheumatoid arthritis Cachexia Chronic diarrhea Diarrhea Bowing of the long bones Postural instability Nausea Genu valgum Malabsorption Nausea and vomiting Platyspondyly Nail dystrophy Arthritis Hypothyroidism Kyphosis Peters anomaly Volvulus Tapered finger Recurrent urinary tract infections Incoordination Abnormality of the urinary system Hypoplasia of the radius Torticollis Spontaneous abortion Elbow flexion contracture Increased body weight Low anterior hairline Aspiration Long eyelashes Low posterior hairline Short metatarsal Blue sclerae High myopia Congenital diaphragmatic hernia Otitis media Webbed neck Vesicoureteral reflux Sepsis Triangular face Delayed eruption of teeth Sleep disturbance Deep philtrum Pyloric stenosis Recurrent hypoglycemia Abnormality of the sternum Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Hiatus hernia Poor appetite Ectrodactyly Oligodactyly Dislocated radial head Self-injurious behavior Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Proximal placement of thumb Thoracic scoliosis Dental crowding Colitis Increased number of teeth Narrow naris Hepatic cysts Porencephalic cyst Dry hair Bifid tongue Abnormal cortical gyration Myelomeningocele Arachnoid cyst Atrioventricular canal defect Gray matter heterotopias Molar tooth sign on MRI Radial deviation of finger Polycystic kidney dysplasia Cutaneous syndactyly Microretrognathia Hypoplasia of dental enamel Bifid uvula Abnormal cerebellum morphology Abnormality of the cerebral white matter Hypothalamic hamartoma Alveolar ridge overgrowth Fused teeth Abnormality of dental enamel Tarsal synostosis Open bite Preaxial hand polydactyly Cone-shaped epiphysis Chronic otitis media Hand polydactyly Brittle hair Reduced bone mineral density Multicystic kidney dysplasia Multiple glomerular cysts Short toe Abnormality of the face Dandy-Walker malformation Hypodontia Finger syndactyly Hydronephrosis Dystonia Trident hand Abnormality of toe Depressivity Metopic synostosis Exocrine pancreatic insufficiency Splenomegaly Everted lower lip vermilion Dolichocephaly Joint laxity High forehead Polyhydramnios Acidosis Patent ductus arteriosus Midface retrusion Hepatomegaly Narrow forehead Chronic tubulointerstitial nephritis Short iliac bones Pes valgus Thoracic dysplasia Elevated serum creatinine Metaphyseal widening Short foot Respiratory insufficiency Thickened skin Ectodermal dysplasia Cholestasis Horizontal ribs Cystic hygroma Portal fibrosis Bile duct proliferation Cloverleaf skull Broad philtrum Cholangitis Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Mesomelia Left ventricular hypertrophy Preaxial polydactyly Patent foramen ovale Chronic kidney disease Cutis laxa Plagiocephaly Sparse eyelashes Narrow palpebral fissure Hyperbilirubinemia Hydrops fetalis Foot polydactyly Abnormality of the skull Vertebral fusion Long palm Facial palsy Carcinoma EEG abnormality Visual loss Microphthalmia Spasticity Pain Onychauxis Laryngeal stridor Hypotrichosis Postprandial hyperglycemia Narrow palm Macrodontia Broad eyebrow Diastema Hypocholesterolemia Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Papule Arachnodactyly Ketoacidosis Hypogonadotrophic hypogonadism Long fingers Basal cell carcinoma Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Neoplasm of the skin Spina bifida occulta Hemivertebrae Muscle stiffness Palmoplantar keratoderma Spina bifida Bradycardia Hyperpigmentation of the skin Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Nevus Progeroid facial appearance Bell-shaped thorax Hypoplasia of the zygomatic bone Absent speech Muscular hypotonia of the trunk Abnormality of the nervous system Neonatal hypotonia Pes planus Macrotia Hyperkeratosis Posteriorly rotated ears Constipation Recurrent infections Hyperlordosis Short nose Hypoplasia of the corpus callosum Ventriculomegaly Muscular hypotonia Odontogenic neoplasm Lip pit Hamartoma of tongue Accessory oral frenulum Broad alveolar ridges Feeding difficulties in infancy Long face Metatarsus adductus Sparse and thin eyebrow Hyperglycemia Neonatal respiratory distress Clitoral hypertrophy Poor suck Abnormality of the outer ear Nephrocalcinosis Narrow palate Narrow face Preauricular skin tag Insulin resistance Thick vermilion border Wide anterior fontanel Thin skin Fine hair Epidermal acanthosis Coarctation of aorta Optic disc pallor Dehydration Intestinal malrotation Abdominal distention Intestinal polyp



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