Brachydactyly, and Intestinal malrotation

Diseases related with Brachydactyly and Intestinal malrotation

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18


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 with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

Medium match CORNELIA DE LANGE SYNDROME 4; CDLS4


Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cleft palate
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 4; CDLS4

Medium match SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3


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 3 WITH OR WITHOUT POLYDACTYLY; SRTD3 Is also known as srps2b|polydactyly with neonatal chondrodystrophy, type iii|verma-naumoff syndrome|asphyxiating thoracic dystrophy 3|short rib-polydactyly syndrome, type i|polydactyly with neonatal chondrodystrophy, type i|srps3|short rib-polydactyly syndrome, type iib|s

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Brachydactyly
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY; SRTD3

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Other less relevant matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6


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 6 WITH OR WITHOUT POLYDACTYLY; SRTD6 Is also known as majewski syndrome|short rib-polydactyly syndrome, type ii|srps2a|srps, type ii|polydactyly with neonatal chondrodystrophy, type ii|short rib-polydactyly syndrome, type iia

Related symptoms:

  • Short stature
  • Cleft palate
  • Delayed speech and language development
  • Motor delay
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY; SRTD6

Medium match GREENBERG DYSPLASIA


Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Low match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Low 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

Low match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Low match 3C SYNDROME


Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Top 5 symptoms//phenotypes associated to Brachydactyly and Intestinal malrotation

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Short ribs Oral cleft Abnormal facial shape Narrow chest Macrocephaly Cleft lip Polydactyly Syndactyly Patent ductus arteriosus Micrognathia Limb undergrowth Wide nasal bridge Atrial septal defect Short neck Microcephaly Global developmental delay Skeletal dysplasia Respiratory insufficiency Respiratory distress Abnormal heart morphology Thoracic dysplasia Hepatomegaly Epicanthus Cleft upper lip Downturned corners of mouth Scoliosis Ambiguous genitalia Abnormality of the genital system High forehead Polyhydramnios Splenomegaly Horizontal ribs Pulmonary hypoplasia Depressed nasal bridge Cerebellar vermis hypoplasia Delayed speech and language development Intellectual disability Generalized hypotonia Growth delay Abnormal cardiac septum morphology Edema Mesomelia Hamartoma of tongue Severe short stature Anteverted nares Polycystic kidney dysplasia Ptosis Hypospadias Inguinal hernia Abnormality of cardiovascular system morphology Pectus carinatum Short nose Preaxial polydactyly Downslanted palpebral fissures Postaxial polydactyly Micromelia Platyspondyly Intrauterine growth retardation Thin upper lip vermilion Gastroesophageal reflux

Rare Symptoms - Less than 30% cases


Short palm Abnormality of the larynx Mitral stenosis Postural instability Microglossia Hearing impairment Frontal bossing Median cleft lip Hydrops fetalis Pachygyria Median cleft lip and palate Double outlet right ventricle Full cheeks Large fontanelles Renal cyst Brachycephaly Pierre-Robin sequence Thin vermilion border Postnatal growth retardation Pulmonic stenosis Broad palm Single umbilical artery Short toe Microretrognathia Kyphosis Recurrent respiratory infections Extramedullary hematopoiesis Lethal skeletal dysplasia Dandy-Walker malformation Dilatation Hypoplastic fingernail Decreased skull ossification Narrow nasal bridge Prominent occiput Iris coloboma Disproportionate short-limb short stature Abnormality of the fingernails Aortic valve stenosis Bowing of the long bones Omphalocele Wormian bones Hernia Cerebellar hypoplasia Telecanthus Abnormality of the pinna Muscular hypotonia Neonatal respiratory distress Postaxial hand polydactyly Hypoplastic left heart Lateral clavicle hook Synophrys Optic atrophy Feeding difficulties Cryptorchidism Thick eyebrow Hemivertebrae Bifid tongue Posteriorly rotated ears Thoracic hypoplasia Metaphyseal irregularity Talipes equinovarus Hand polydactyly Agenesis of corpus callosum Flat face Anal atresia Abnormality of the dentition Micropenis Hydronephrosis Craniosynostosis Clinodactyly Ventriculomegaly Long philtrum Cystic hygroma Prominent nasal bridge Hypoplastic scapulae Entropion Broad foot Endocardial fibroelastosis Facial hemangioma Protuberant abdomen Anencephaly Atelectasis Hypoplastic nipples Natal tooth Short finger Preaxial foot polydactyly Lobulated tongue Cystic renal dysplasia Pancreatic cysts Accessory spleen Short thorax Periportal fibrosis Redundant neck skin Cleft soft palate Fetal ascites Pancreatic dysplasia Bowing of the arm Intrahepatic bile duct cysts Absent internal genitalia Tracheal stenosis Failure to thrive Milia Short long bone Bowing of the legs Ascites Contractures of the large joints Posterior fossa cyst Talipes Abnormality of the fontanelles or cranial sutures Humoral immunodeficiency Abnormal tricuspid valve morphology Short foot Cerebellar malformation Single transverse palmar crease Complete atrioventricular canal defect Laryngeal hypoplasia Aplasia/Hypoplasia of the nipples Abnormal mitral valve morphology Wide intermamillary distance Anophthalmia Communicating hydrocephalus Enlarged cisterna magna Renal hypoplasia Cataract Missing ribs Bronchomalacia Adrenal hypoplasia Posterior embryotoxon Anotia Atrioventricular canal defect Bilateral single transverse palmar creases Holoprosencephaly Patent foramen ovale Ectopic anus Camptodactyly Peripheral neuropathy Hypoplasia of the zygomatic bone Abnormality of the mandible Platybasia Biconcave vertebral bodies Bifid uvula Periodontitis Decreased antibody level in blood Growth hormone deficiency Toe syndactyly Abnormality of the skull Patellar dislocation Multiple renal cysts Syringomyelia Renal agenesis Open bite High, narrow palate Finger syndactyly Hypoplasia of penis Abnormality of the skeletal system Glaucoma Feeding difficulties in infancy Prominent forehead Alopecia Sparse hair Immunodeficiency Flexion contracture Rough bone trabeculation Coloboma Partial absence of toe Broad forehead Hypoplastic 5th lumbar vertebrae Absent frontal sinuses Neurological speech impairment Tetralogy of Fallot Low posterior hairline Myopia Coarse facial features Short distal phalanx of finger Dry skin Joint hyperflexibility Delayed puberty Dolichocephaly Umbilical hernia Arthralgia Abnormality of neuronal migration Congenital glaucoma Osteopenia Abnormality of the kidney Abnormality of the hip bone Osteoporosis Headache Wide nose Unilateral renal agenesis Abnormality of the voice Narrow palate Coarse hair Preauricular skin tag Arnold-Chiari malformation Osteolysis Horseshoe kidney Generalized hirsutism Abnormality of the hand Recurrent fractures Low anterior hairline Skin ulcer Chorioretinal coloboma Bone pain Thickened skin Aplasia/Hypoplasia of the cerebellum Narrow mouth Severe short-limb dwarfism Tracheomalacia Muscle stiffness Motor delay Lacrimal duct stenosis Chronic lung disease Preauricular pit Laryngomalacia Plagiocephaly Cerebral visual impairment Astigmatism Abnormal lung morphology Narrow forehead Broad nasal tip Poor speech Low-set, posteriorly rotated ears Neonatal hypotonia Hypermetropia Retinal dystrophy Dystonia Polysyndactyly of hallux Hypoplasia of the maxilla Hepatosplenomegaly Midface retrusion Malar flattening Disproportionate shortening of the tibia Postaxial polysyndactyly of foot Shortening of the tibia Hepatic fibrosis Pancreatic fibrosis Hypoplasia of the epiglottis Spondylometaphyseal dysplasia Dilation of lateral ventricles Short tibia Preaxial hand polydactyly Tricuspid regurgitation Absent speech Intellectual disability, severe Abnormal form of the vertebral bodies Highly arched eyebrow Submucous cleft hard palate Slender finger Short femoral neck Cutis marmorata Radioulnar synostosis Finger clinodactyly Smooth philtrum Vertebral clefting Attention deficit hyperactivity disorder Hyperactivity Upslanted palpebral fissure Clinodactyly of the 5th finger Vertebral wedging Hypoplastic ischia Exostoses Prominent eyelashes Visual impairment Enlarged kidney Strabismus Seizures Metaphyseal spurs Acetabular spurs Absent tibia Cerebellar cyst Fibular hypoplasia Small hand Transposition of the great arteries Metaphyseal dysplasia Femoral bowing Hypoplasia of the ulna Cone-shaped epiphysis Metaphyseal widening Renal dysplasia Cardiomegaly Short phalanx of finger Anteriorly placed anus Laryngeal calcification Patchy variation in bone mineral density Sternal punctate calcifications Anterior rib punctate calcifications Abnormal ossification involving the femoral head and neck Supernumerary vertebral ossification centers Abnormality of the vertebral spinous processes Tracheal calcification Dysphagia Abnormality of the calcaneus Punctate vertebral calcifications Abnormal foot bone ossification Hepatic calcification Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies High palate Hypoplasia of the corpus callosum Horizontal sacrum Short palpebral fissure Bilateral cryptorchidism Proximal placement of thumb Abnormality of the genitourinary system Sparse eyelashes Narrow palpebral fissure Wide anterior fontanel Small nail Cardiomyopathy Oligohydramnios Abdominal distention Hirsutism Blepharophimosis Retrognathia Respiratory failure Vomiting Short diaphyses Abnormality of the scapula Rhizomelia Postaxial foot polydactyly Large forehead Nonimmune hydrops fetalis Misalignment of teeth Calvarial skull defect Preeclampsia Barrel-shaped chest Abnormal lung lobation Ulnar deviation of the hand Epiphyseal stippling Abnormal joint morphology Flared metaphysis Pleural effusion Sandal gap Bone marrow hypocellularity Lymphedema 11 pairs of ribs Metaphyseal cupping Abnormality of cholesterol metabolism Multiple prenatal fractures Abnormality of the orbital region Ectopic ossification Aplasia/hypoplasia of the extremities Abnormal leukocyte morphology Severe hydrops fetalis Abnormally ossified vertebrae Abnormal bone ossification Diaphyseal thickening Absent toenail Vertebral hypoplasia Sclerosis of skull base Hypoplastic vertebral bodies Pancreatic islet-cell hyperplasia Long clavicles Ectopic calcification Primum atrial septal defect



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