Intrauterine growth retardation, and Syndactyly

Diseases related with Intrauterine growth retardation and Syndactyly

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Syndactyly that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Abnormal facial shape
  • Intrauterine growth retardation
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 22; JBTS22

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Low match MONOSOMY 5P

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.

MONOSOMY 5P Is also known as cri du chat syndrome|deletion 5p

Related symptoms:

  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 5P

Other less relevant matches:

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The classic facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile (Rubinstein and Taybi, 1963; review by Hennekam, 2006).About 50 to 70% of patients have RSTS1 due to mutation in the CREBBP gene (OMIM ). RSTS2 is much less common, and about 3% of patients have mutations in the EP300 gene. RSTS2 appears to be associated with a milder phenotype than RSTS1. Patients with RSTS2 have less severe facial dysmorphism and better cognitive function, but may have more severe microcephaly and malformation of facial bone structures compared to those with RSTS1 (Bartsch et al., 2010).For a discussion of genetic heterogeneity of Rubinstein-Taybi syndrome, see RSTS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME DUE TO EP300 HAPLOINSUFFICIENCY

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.

ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE Is also known as rodriguez lethal acrofacial dysostosis syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, RODRÍGUEZ TYPE

Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.

SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME Is also known as star syndrome|syndactyly with renal and anogenital malformations

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SYNDACTYLY-TELECANTHUS-ANOGENITAL AND RENAL MALFORMATIONS SYNDROME

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Syndactyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Syndactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Growth delay Finger syndactyly Low-set ears High palate Micrognathia Hypertelorism Cryptorchidism Cleft palate Downslanted palpebral fissures Short neck Abnormality of cardiovascular system morphology Scoliosis Single transverse palmar crease Clinodactyly Coloboma Hypospadias Ventricular septal defect Myopia Low-set, posteriorly rotated ears Epicanthus

Rare Symptoms - Less than 30% cases

Seizures Telecanthus Failure to thrive Micropenis Posteriorly rotated ears Spina bifida Autism Retrognathia Respiratory insufficiency Hypotelorism Depressed nasal bridge 2-3 toe syndactyly Hearing impairment Overlapping toe Congestive heart failure Postnatal growth retardation Prominent nose Spina bifida occulta Craniosynostosis Microretrognathia Wide nose Inguinal hernia Ptosis Abnormal form of the vertebral bodies Long philtrum Polydactyly Aplasia/Hypoplasia of the radius Severe global developmental delay Microphthalmia Confusion Congenital diaphragmatic hernia Atrial septal defect Kyphosis Microtia Deeply set eye Hernia Narrow mouth Abnormality of the ribs Malar flattening Recurrent respiratory infections Broad forehead Severe short stature Respiratory failure Anteverted nares Talipes equinovarus Umbilical hernia Hyperlordosis Respiratory tract infection Camptodactyly of finger Kyphoscoliosis Deep-set nails Macrocephaly Hand oligodactyly Abnormality of the uterus Sprengel anomaly Fibular hypoplasia 11 pairs of ribs Oligodactyly Short humerus Supernumerary nipple Aqueductal stenosis Triphalangeal thumb Radioulnar synostosis Absent forearm Abnormality of pelvic girdle bone morphology Renal hypoplasia/aplasia Wide anterior fontanel Thin skin Phocomelia Prominent nasal bridge Short philtrum Arrhinencephaly Aplasia/Hypoplasia of the ulna Short tibia Abnormal vertebral morphology Cervical C2/C3 vertebral fusion Hemivertebrae Macular dystrophy Anal atresia Bulbous nose Retinal dystrophy Broad nasal tip Vesicoureteral reflux Renal agenesis Horseshoe kidney Aortic regurgitation Bicuspid aortic valve Hypoplasia of the radius Clitoral hypertrophy Ectopic kidney Anal stenosis Toe syndactyly Syringomyelia Narrow nose Pulmonary artery stenosis Eyelid coloboma Rectovaginal fistula Bicornuate uterus Labial hypoplasia Peripheral pulmonary artery stenosis Duane anomaly Lop ear Pelvic kidney 4-5 toe syndactyly Talipes Small for gestational age Scapular winging Abnormality of female internal genitalia Abnormality of the urinary system Preaxial polydactyly Short thorax Prominent occiput Vertebral segmentation defect Abnormality of immune system physiology Abnormality of the ureter Double outlet right ventricle Meningocele Disproportionate short-trunk short stature Rib fusion Anomalous pulmonary venous return Urogenital fistula Abnormal cardiac septum morphology Abnormality of the intervertebral disk Hypoplasia of the frontal bone Block vertebrae Abnormality of the odontoid process Rib segmentation abnormalities Abnormality of the skeletal system Renal insufficiency Clinodactyly of the 5th finger Thin upper lip vermilion Hydronephrosis Joint laxity Abnormality of the pinna Lobar holoprosencephaly Protruding ear Duplication of thumb phalanx Obstructive sleep apnea Feeding difficulties Motor delay Gait ataxia Astigmatism Rhizomelia Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening Scaphocephaly Broad femoral neck Cat cry Generalized hypotonia Strabismus Sensorineural hearing impairment Short nose Wide mouth Smooth philtrum Abnormality of skin pigmentation Tetralogy of Fallot Sloping forehead Bilateral sensorineural hearing impairment Cupped ear Cataract Abnormality of bone mineral density Chromosome breakage Pyloric stenosis Postaxial polydactyly Postaxial hand polydactyly Renal hypoplasia Molar tooth sign on MRI Foot polydactyly Postaxial foot polydactyly Retinal dysplasia Undetectable electroretinogram Hepatomegaly Thrombocytopenia Abnormality of the cardiovascular system Trigonocephaly High pitched voice Radial deviation of finger Prolonged bleeding time Megakaryocyte dysplasia Muscular hypotonia Intellectual disability, severe Joint hyperflexibility Small hand Recurrent fractures Round face Preauricular skin tag Abnormality of the voice Cutis marmorata Optic nerve coloboma Hypernatremia Aplasia/Hypoplasia of the corpus callosum Hypogonadism Neonatal hypotonia Cleft lip Cleft upper lip Oral cleft Ectodermal dysplasia Intellectual disability, profound Split hand Encephalocele Holoprosencephaly Cutaneous syndactyly Poor head control Posterior helix pit Hypoplasia of the brainstem Diabetes insipidus Non-midline cleft lip Abnormality of digit Absent septum pellucidum Ectrodactyly Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Semilobar holoprosencephaly Agenesis of corpus callosum Mild myopia Small face Premature birth Premature chromatid separation Hypoplasia of the cochlea Cognitive impairment Delayed speech and language development Intellectual disability, mild Delayed skeletal maturation Autistic behavior Carious teeth Genu valgum Hirsutism Highly arched eyebrow Intestinal malrotation Pes valgus Dental malocclusion Convex nasal ridge Broad thumb Long eyelashes Narrow palate Delayed gross motor development Broad hallux Long nose Low hanging columella Preeclampsia Overbite Mitral atresia


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