Brachydactyly, and Renal hypoplasia

Diseases related with Brachydactyly and Renal hypoplasia

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


Top matches:

Medium match BARDET-BIEDL SYNDROME 3; BBS3


BBS3 is a rare autosomal recessive disorder characterized by retinal dystrophy, polydactyly, renal structural abnormalities, and history of obesity. Although mental retardation has been considered part of the BBS phenotype, several patients with BBS3 and normal intelligence have been reported. Additionally, the obesity in several BBS3 patients has been reversible with caloric restriction and exercise (Young et al., 1998; Ghadami et al., 2000).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Brachydactyly
  • Blindness
  • Obesity


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 3; BBS3

Medium match ADAMS-OLIVER SYNDROME 6; AOS6


Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Hypertension
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 6; AOS6

Medium 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

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Other less relevant matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7


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 7 WITH OR WITHOUT POLYDACTYLY; SRTD7 Is also known as short rib-polydactyly syndrome, type v|srps5

Related symptoms:

  • Cleft palate
  • High palate
  • Epicanthus
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY; SRTD7

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Medium match SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE


Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Medium match MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES


Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.

MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES Is also known as microphthalmia and pituitary anomalies|microphthalmia with brain and digit developmental anomalies|syndromic microphthalmia type 6|anophthalmia, clinical, with micrognathia, malformed ears, digital anomalies, and abnormal external genitalia|bakrania-ragge

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MICROPHTHALMIA WITH BRAIN AND DIGIT ANOMALIES

Medium match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Medium match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Medium match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Top 5 symptoms//phenotypes associated to Brachydactyly and Renal hypoplasia

Symptoms // Phenotype % cases
Polydactyly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Limb undergrowth Postaxial polydactyly Syndactyly Hypertelorism Epicanthus High palate Intellectual disability Growth delay Abnormal facial shape Micrognathia Posteriorly rotated ears Hypospadias Thoracic dysplasia Pulmonary hypoplasia Short ribs Short foot Oral cleft Edema Short neck Renal cyst Ascites Nail dysplasia Cleft lip Short nose Toe syndactyly Micropenis Malar flattening Cryptorchidism Wide nasal bridge Microcephaly Single transverse palmar crease Narrow chest Microglossia Ventricular septal defect Short stature Respiratory distress Respiratory insufficiency Myopia External genital hypoplasia Thin upper lip vermilion

Rare Symptoms - Less than 30% cases


Midface retrusion Clinodactyly of the 5th finger Cystic renal dysplasia Rib fusion Cerebral cortical atrophy Protuberant abdomen Hemivertebrae Hypertension Facial asymmetry Postaxial hand polydactyly Renal dysplasia Omphalocele Microphthalmia Specific learning disability Anal atresia Abnormality of the pinna Bifid uvula Polyhydramnios Respiratory failure Upslanted palpebral fissure Cerebellar hypoplasia Abnormality of cardiovascular system morphology Bilateral cryptorchidism Ataxia Tricuspid regurgitation Short palm Microtia Natal tooth Broad palm Anophthalmia Holoprosencephaly Decreased testicular size Anteverted nares Depressed nasal bridge Abnormality of the genital system Generalized hypotonia Blindness Hearing impairment Scrotal hypoplasia Cleft upper lip Obesity High forehead Patent ductus arteriosus Ptosis Talipes equinovarus Sensorineural hearing impairment Macrocephaly Intrauterine growth retardation Retinal dystrophy Abnormal heart morphology Delayed skeletal maturation Craniosynostosis Optic atrophy Micromelia Cataract Postaxial foot polydactyly Adrenal hypoplasia Mesomelia Agenesis of permanent teeth Cystic hygroma Hypoplastic scapulae Short long bone Inguinal hernia Oligodactyly Respiratory tract infection Microretrognathia Hepatomegaly Clinodactyly Spasticity Muscular hypotonia Dolichocephaly Hydrops fetalis Hepatic fibrosis Nystagmus Abnormality of the kidney Palpitations Bulbous nose Ventricular arrhythmia Tetraparesis Oligodontia Short palpebral fissure Hypoplasia of dental enamel Bicuspid aortic valve Ventricular tachycardia Growth abnormality Cardiac arrest Hyperreflexia Hypogonadism Pes planus Coarse facial features Kyphoscoliosis Short phalanx of finger Gastroesophageal reflux Hyperactivity Pneumonia Scapular winging Constipation Coarctation of aorta Hypertonia Vomiting Intellectual disability, severe Short chin Short metatarsal Prominent U wave Inability to walk Periodic hyperkalemic paralysis Periodic paralysis Hypoplasia of the maxilla Hyperthyroidism Abnormal heart valve morphology Persistence of primary teeth Slender long bone Long nose Delayed eruption of permanent teeth Prolonged QT interval Toe clinodactyly Clinodactyly of the 5th toe Periodic hypokalemic paresis Short mandibular rami Delayed eruption of teeth Hypokalemia Hyperkalemia High pitched voice Loss of consciousness Antegonial notching of mandible Bidirectional ventricular ectopy 2-3 toe syndactyly Prominent frontal sinuses Triangular face Syncope Scaphocephaly Short metacarpal Preauricular pit Small hand Myotonia Decreased body weight Slender finger Telecanthus Precocious puberty Upper airway obstruction Short 4th metacarpal Abnormal lung lobation Hypopituitarism Hamartoma Hydroureter Ectopic kidney Adrenal insufficiency Atresia of the external auditory canal Panhypopituitarism Cutaneous syndactyly Choanal atresia Small nail Renal agenesis Growth hormone deficiency Hip dislocation Hydronephrosis Dyspnea Decreased circulating cortisol level Vaginal atresia Downslanted palpebral fissures Mesoaxial hand polydactyly Mesoaxial foot polydactyly Midline facial capillary hemangioma Distal shortening of limbs Preductal coarctation of the aorta Primitive neuroectodermal tumor Bifid epiglottis Distal urethral duplication Y-shaped metacarpals Thyroid dysgenesis Microphallus Mesoaxial polydactyly Hypothalamic hamartoma Laryngeal cleft Radial head subluxation Hydrometrocolpos Hypoplasia of the epiglottis Mandibular aplasia Bilateral choanal atresia Behavioral abnormality Feeding difficulties Wide mouth Vesicoureteral reflux Widely spaced teeth Intellectual disability, progressive Increased body weight Narrow face Exotropia Open mouth Thick lower lip vermilion Narrow forehead Macroglossia Infantile muscular hypotonia Tapered finger Thick vermilion border Thick eyebrow Paraplegia Genu valgum Abnormality of the foot Nail dystrophy Spastic paraplegia Drooling Tented upper lip vermilion Neoplasm Bilateral renal hypoplasia Triangular nasal tip Overjet Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Widely-spaced maxillary central incisors Talipes calcaneovalgus U-Shaped upper lip vermilion Encephalitis Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Protruding tongue Abnormality of blood and blood-forming tissues Pulmonic stenosis Mild short stature Radial deviation of finger Tachycardia Hypothyroidism Broad forehead Thickened skin Enlarged kidney Generalized hyperpigmentation Macular dystrophy Premature graying of hair Redundant skin Multicystic kidney dysplasia Muscle stiffness Abnormality of the face Polysplenia Depressed nasal ridge Hypopigmentation of the skin Rigidity Recurrent respiratory infections Tremor Strabismus Short uvula Broad neck Oxycephaly Short lingual frenulum Frontal bossing Dandy-Walker malformation Wide intermamillary distance Intestinal malrotation Flat face Talipes Splenomegaly Hydrocephalus Extrapulmonary sequestrum Subcortical cerebral atrophy Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Cerebral cortical hemiatrophy Pancreatic fibrosis Abnormality of the cerebellar vermis Lymphangioma Fused teeth Bilateral postaxial polydactyly Short toe Cutis marmorata Cutis marmorata telangiectatica congenita Foot oligodactyly Aplasia cutis congenita of scalp Esophageal varix Calvarial skull defect Truncus arteriosus Aplasia cutis congenita Hypoplastic toenails Stage 5 chronic kidney disease Portal hypertension Abnormal cardiac septum morphology Unilateral renal hypoplasia Pigmentary retinopathy Nyctalopia Retinopathy Rod-cone dystrophy Proteinuria Full cheeks Flat acetabular roof Hepatic failure Thoracic hypoplasia Aplasia/Hypoplasia of the eyebrow Polycystic kidney dysplasia Bowing of the long bones Fine hair Microdontia Short distal phalanx of finger Sparse hair Rhizomelia Renal insufficiency Chronic tubulointerstitial nephritis Short iliac bones Pes valgus Elevated serum creatinine Glomerulonephritis Metaphyseal widening Ambiguous genitalia Bilateral single transverse palmar creases Blepharophimosis Foot polydactyly Abnormality of the cervical spine Anterior pituitary hypoplasia Lambdoidal craniosynostosis Anterior hypopituitarism Abnormality of the hypothalamus-pituitary axis Delayed CNS myelination Sclerocornea Short middle phalanx of finger Inferior vermis hypoplasia Preaxial hand polydactyly Bifid scrotum Proximal placement of thumb Chorioretinal coloboma Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Severe muscular hypotonia Female hypogonadism Orbital cyst High myopia Abnormality of the skeletal system Paralysis Joint laxity Gait ataxia Arrhythmia Depressivity Congestive heart failure Abnormality of the dentition Fever Uplifted earlobe Pain Muscle weakness Scoliosis Aplasia of the optic tract Small sella turcica Flexion contracture of thumb Small scrotum Abnormal vertebral morphology Microcornea Disproportionate short-limb short stature Anencephaly Pancreatic cysts Atelectasis Bifid tongue Preaxial foot polydactyly Single umbilical artery Broad foot Median cleft lip Hypoplastic nipples Horizontal ribs Short finger Milia Short thorax Bowing of the legs Metaphyseal irregularity Preaxial polydactyly Patent foramen ovale Median cleft lip and palate Accessory spleen Iris coloboma Absent speech Finger syndactyly Coloboma Protruding ear Retrognathia Macrotia Brachycephaly Agenesis of corpus callosum Ventriculomegaly Lobulated tongue Failure to thrive Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Hamartoma of tongue Diverticulosis of trachea



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Lymphedema, related diseases and genetic alterations Brachydactyly and Facial asymmetry, related diseases and genetic alterations Spasticity and Syncope, related diseases and genetic alterations Hypertension and Renal cyst, related diseases and genetic alterations Sensorineural hearing impairment and Jaundice, related diseases and genetic alterations Seizures and Hypotension, related diseases and genetic alterations

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