Brachydactyly, and Polyhydramnios

Diseases related with Brachydactyly and Polyhydramnios

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


Top matches:

Medium match SALDINO-MAINZER SYNDROME


Saldino-Mainzer syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.

SALDINO-MAINZER SYNDROME Is also known as renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome|conorenal syndrome

Related symptoms:

  • Short stature
  • Cryptorchidism
  • Delayed speech and language development
  • Brachydactyly
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about SALDINO-MAINZER SYNDROME

Medium match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


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 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

Medium match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

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Other less relevant matches:

Medium match SCHNECKENBECKEN DYSPLASIA


Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Medium match BOOMERANG DYSPLASIA


Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • Brachydactyly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about BOOMERANG DYSPLASIA

Medium match THANATOPHORIC DYSPLASIA TYPE 1


Thanatophoric dysplasia type 1 (TD1) is a form of TD (see this term) characterized by short, bowed femurs, micromelia, narrow thorax, and brachydactyly.

THANATOPHORIC DYSPLASIA TYPE 1 Is also known as thanatophoric dwarfism type 1|td1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 1

Medium match THANATOPHORIC DYSPLASIA TYPE 2


Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull (kleeblattschaedel).

THANATOPHORIC DYSPLASIA TYPE 2 Is also known as thanatophoric dwarfism type 2|cloverleaf skull-micromelic bone dysplasia syndrome|thanatophoric dysplasia with kleeblattschaedel|thanatophoric dysplasia with straight femurs and cloverleaf skull|td2|cloverleaf skull with thanatophoric dwarfism|thanatophor

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about THANATOPHORIC DYSPLASIA TYPE 2

Medium match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


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}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Medium match THANATOPHORIC DYSPLASIA, TYPE I; TD1


Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).

THANATOPHORIC DYSPLASIA, TYPE I; TD1 Is also known as thanatophoric dysplasia|lethal short-limbed platyspondylic dwarfism, san diego type|thanatophoric dwarfism|td|platyspondylic lethal skeletal dysplasia, san diego type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about THANATOPHORIC DYSPLASIA, TYPE I; TD1

Medium match OPSISMODYSPLASIA


Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Polyhydramnios

Symptoms // Phenotype % cases
Narrow chest Very Common - Between 80% and 100% cases
Macrocephaly Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Short ribs Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micromelia

Uncommon Symptoms - Between 30% and 50% cases


Skeletal dysplasia Abnormality of the metaphysis Platyspondyly Severe short stature Short stature Frontal bossing Muscular hypotonia Hypoplastic ilia Metaphyseal irregularity Disproportionate short-limb short stature Patent ductus arteriosus Aplasia/Hypoplasia of the lungs Respiratory distress Short long bone Proptosis Abnormality of the kidney Kyphosis Atrial septal defect Hydrocephalus Ventriculomegaly Severe short-limb dwarfism Hearing impairment Seizures Femoral bowing Cryptorchidism Lethal short-limbed short stature Polydactyly Limb undergrowth Joint stiffness Cleft lip Flat face Increased nuchal translucency Acanthosis nigricans Thoracic dysplasia Lateral clavicle hook Redundant skin Short femur Wide anterior fontanel Cloverleaf skull Hepatomegaly Recurrent respiratory infections Short sacroiliac notch Postaxial polydactyly Oral cleft Syndactyly

Rare Symptoms - Less than 30% cases


Anterior rib cupping Small face Short neck Edema Small foramen magnum Hypoplastic vertebral bodies Excessive wrinkled skin Small abnormally formed scapulae Vertebral hypoplasia Wide-cupped costochondral junctions Flat acetabular roof Intellectual disability, profound Splenomegaly Flared metaphysis Abnormality of neuronal migration Abnormally ossified vertebrae Respiratory tract infection Split hand Generalized hypotonia Hypertelorism Abnormal facial shape Anteverted nares Long philtrum Midface retrusion Pectus excavatum Heterotopia Bowing of the long bones Finger syndactyly Horizontal ribs Short thorax Broad thumb Decreased fetal movement Severe platyspondyly Bell-shaped thorax Limitation of joint mobility Nail dysplasia Occipital encephalocele Encephalocele Hypodontia Hepatosplenomegaly Cleft upper lip Scoliosis Downslanted palpebral fissures Coarctation of aorta Epicanthus Holoprosencephaly Low-set ears Postaxial hand polydactyly Median cleft lip Small nail Large fontanelles Short nose Delayed skeletal maturation Respiratory failure Wide mouth Short palm Small hand Short foot Tapered finger Short metacarpal Blue sclerae Abnormality of epiphysis morphology Lethal skeletal dysplasia Rhizomelia Recurrent pneumonia Hypoplastic ischia Relative macrocephaly Prominent supraorbital ridges Flat occiput Hypophosphatemia Protuberant abdomen Renal phosphate wasting Delayed epiphyseal ossification Metaphyseal cupping Craniofacial dysostosis Megalencephaly Horseshoe kidney Complete atrioventricular canal defect Cutaneous syndactyly Cone-shaped epiphysis Mesomelia Atrioventricular canal defect Metaphyseal dysplasia Hamartoma Increased number of teeth Spinal canal stenosis Short clavicles Vaginal atresia Accessory oral frenulum Radioulnar synostosis Squared iliac bones Bilateral postaxial polydactyly Hypoplastic pubic bone Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Global developmental delay Growth delay Abnormality of the skeletal system Polymicrogyria Epidermal acanthosis Joint hyperflexibility Aplasia/Hypoplasia of the abdominal wall musculature Cognitive impairment Interstitial pulmonary abnormality Abnormality of the foot Thick vermilion border Highly arched eyebrow Tachypnea Abnormality of the hand Short middle phalanx of finger Hallux valgus Exertional dyspnea Dyspnea Abnormality of digit Tracheomalacia Short columella Bronchomalacia Parietal bossing Bronchospasm Intercostal retractions Retrognathia Clinodactyly Malar flattening Abnormality of the genitourinary system Delayed speech and language development Renal insufficiency Obesity Rod-cone dystrophy Stage 5 chronic kidney disease Ectodermal dysplasia Nephrocalcinosis Metaphyseal widening Acetabular spurs Thoracic hypoplasia Failure to thrive Ventricular septal defect Pulmonary hypoplasia Ambiguous genitalia Preaxial polydactyly Pancreatic fibrosis Cleft palate Dolichocephaly Abnormality of the sacroiliac joint Coronal cleft vertebrae Omphalocele Hydrops fetalis Abnormality of the metacarpal bones Absent radius Abnormality of the ulna Abnormality of tibia morphology Abnormality of femur morphology Abnormality of the humerus Growth hormone deficiency Fibular aplasia Abnormality of the radius Abnormal bone ossification Aplasia/Hypoplasia of the fibula Hypoplastic iliac body Hypoplastic nasal septum Poorly ossified vertebrae Underdeveloped nasal alae Alopecia Abnormal form of the vertebral bodies Ovoid vertebral bodies Lymphedema Spontaneous abortion Abnormality of the fingernails Accelerated skeletal maturation Hypoplastic toenails Fibular hypoplasia Hypoplastic scapulae Diaphyseal thickening Wide nasal bridge Advanced ossification of carpal bones Severe hydrops fetalis Dumbbell-shaped long bone Unossified vertebral bodies Advanced tarsal ossification Increased fibular diameter Snail-like ilia Micrognathia Posterior rib cupping



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